Short stature

Symptom Information:

Symptom ID: HPO:0004322
Synonyms:
Decreased body height [HPO:0004322]
Height less than 3rd percentile [HPO:0004322]
Short stature (below 3rd percentile) [HPO:0004322]
Small stature [HPO:0004322]
Constitutional short stature (disorder) [Orphanet:53350]
Dwarfism (disorder) [Orphanet:53350]
Short stature disorder (disorder) [Orphanet:53350]
Short stature [Orphanet:53350]
Dwarfism [Orphanet:53350]
Height less than 3rd percentile [OMIM:Height less than 3rd percentile]
Short stature [OMIM:Short stature]
Small stature [OMIM:Small stature]
Short stature/dwarfism/nanism [Orphanet:53350]
Stature short [Orphanet:53350]
Dwarfism [MedDRA:10013883]
Dwarf [MedDRA:10013883]
Dwarfism NOS [MedDRA:10013883]
Dwarfism, not elsewhere classified [MedDRA:10013883]
Nanism [MedDRA:10013883]
Pituitary dwarfism [MedDRA:10013883]
Runting [MedDRA:10013883]
Body height below normal [MedDRA:10056811]
Short stature [MedDRA:10056811]
Small stature [MedDRA:10056811]
Stature short [MedDRA:10056811]
Short stature (-4 to -6 S.D. below mean) [OMIM:Short stature (-4 to -6 S.D. below mean)]
Short stature (1 family) [OMIM:Short stature (1 family)]
Short stature (1 patient) [OMIM:Short stature (1 patient)]
Short stature (13 of 23 patients) [OMIM:Short stature (13 of 23 patients)]
Short stature (2/4 patients) [OMIM:Short stature (2/4 patients)]
Short stature (20% of adults) [OMIM:Short stature (20% of adults)]
Short stature (3rd percentile) [OMIM:Short stature (3rd percentile)]
Short stature (3rd-10th percentile) [OMIM:Short stature (3rd-10th percentile)]
Short stature (3rd-25th percentile) [OMIM:Short stature (3rd-25th percentile)]
Short stature (3rd-90th centile, infrequent finding) [OMIM:Short stature (3rd-90th centile, infrequent finding)]
Short stature (5th percentile) [OMIM:Short stature (5th percentile)]
Short stature (5th-10th percentile) [OMIM:Short stature (5th-10th percentile)]
Short stature (<10th percentile for age) [OMIM:Short stature (<10th percentile for age)]
Short stature (<25% centile) [OMIM:Short stature (<25% centile)]
Short stature (<25th percentile) [OMIM:Short stature (<25th percentile)]
Short stature (<3.5 SD below the mean) [OMIM:Short stature (<3.5 SD below the mean)]
Short stature (<3rd percentile) [OMIM:Short stature (<3rd percentile)]
Short stature (<5-15th percentile) [OMIM:Short stature (<5-15th percentile)]
Short stature (<5th-10th percentile) [OMIM:Short stature (<5th-10th percentile)]
Short stature (adult height <152cm) [OMIM:Short stature (adult height <152cm)]
Short stature (adult) [OMIM:Short stature (adult)]
Short stature (adults) [OMIM:Short stature (adults)]
Short stature (childhood) [OMIM:Short stature (childhood)]
Short stature (deletion patients) [OMIM:Short stature (deletion patients)]
Short stature (female) [OMIM:Short stature (female)]
Short stature (fifth to tenth centile) [OMIM:Short stature (fifth to tenth centile)]
Short stature (final adult height less than 152cm) [OMIM:Short stature (final adult height less than 152cm)]
Short stature (if untreated) [OMIM:Short stature (if untreated)]
Short stature (in 2 of 3 siblings) [OMIM:Short stature (in 2 of 3 siblings)]
Short stature (in childhood) [OMIM:Short stature (in childhood)]
Short stature (in males) [OMIM:Short stature (in males)]
Short stature (in patients with childhood-onset) [OMIM:Short stature (in patients with childhood-onset)]
Short stature (in some cases) [OMIM:Short stature (in some cases)]
Short stature (in some patients) [OMIM:Short stature (in some patients)]
Short stature (less common) [OMIM:Short stature (less common)]
Short stature (less than 3rd percentile) [OMIM:Short stature (less than 3rd percentile)]
Short stature (less than tenth percentile) [OMIM:Short stature (less than tenth percentile)]
Short stature (males) [OMIM:Short stature (males)]
Short stature (of varying degrees) [OMIM:Short stature (of varying degrees)]
Short stature (postnatal onset) [OMIM:Short stature (postnatal onset)]
Short stature (postnatal onset) (81%) [OMIM:Short stature (postnatal onset) (81%)]
Short stature (postnatal onset) (97%) [OMIM:Short stature (postnatal onset) (97%)]
Short stature (rare) [OMIM:Short stature (rare)]
Short stature (reported in 2 families) [OMIM:Short stature (reported in 2 families)]
Short stature (some patients) [OMIM:Short stature (some patients)]
Short stature (some) [OMIM:Short stature (some)]
Short stature (type II, infantile and juvenile) [OMIM:Short stature (type II, infantile and juvenile)]
Short stature. [OMIM:Short stature.]
Body height decreased [MedDRA:10056812]
Quality:
Cross references:
Orphanet:53350 "Short stature/dwarfism/nanism" [Orphanet:53350]
OMIM: "Height less than 3rd percentile" [OMIM:Height less than 3rd percentile]
OMIM: "Short stature" [OMIM:Short stature]
OMIM: "Small stature" [OMIM:Small stature]
OMIM: "Short stature (-4 to -6 S.D. below mean)" [OMIM:Short stature (-4 to -6 S.D. below mean)]
OMIM: "Short stature (1 family)" [OMIM:Short stature (1 family)]
OMIM: "Short stature (1 patient)" [OMIM:Short stature (1 patient)]
OMIM: "Short stature (13 of 23 patients)" [OMIM:Short stature (13 of 23 patients)]
OMIM: "Short stature (2/4 patients)" [OMIM:Short stature (2/4 patients)]
OMIM: "Short stature (20% of adults)" [OMIM:Short stature (20% of adults)]
OMIM: "Short stature (3rd percentile)" [OMIM:Short stature (3rd percentile)]
OMIM: "Short stature (3rd-10th percentile)" [OMIM:Short stature (3rd-10th percentile)]
OMIM: "Short stature (3rd-25th percentile)" [OMIM:Short stature (3rd-25th percentile)]
OMIM: "Short stature (3rd-90th centile, infrequent finding)" [OMIM:Short stature (3rd-90th centile, infrequent finding)]
OMIM: "Short stature (5th percentile)" [OMIM:Short stature (5th percentile)]
OMIM: "Short stature (5th-10th percentile)" [OMIM:Short stature (5th-10th percentile)]
OMIM: "Short stature (<10th percentile for age)" [OMIM:Short stature (<10th percentile for age)]
OMIM: "Short stature (<25% centile)" [OMIM:Short stature (<25% centile)]
OMIM: "Short stature (<25th percentile)" [OMIM:Short stature (<25th percentile)]
OMIM: "Short stature (<3.5 SD below the mean)" [OMIM:Short stature (<3.5 SD below the mean)]
OMIM: "Short stature (<3rd percentile)" [OMIM:Short stature (<3rd percentile)]
OMIM: "Short stature (<5-15th percentile)" [OMIM:Short stature (<5-15th percentile)]
OMIM: "Short stature (<5th-10th percentile)" [OMIM:Short stature (<5th-10th percentile)]
OMIM: "Short stature (adult height <152cm)" [OMIM:Short stature (adult height <152cm)]
OMIM: "Short stature (adult)" [OMIM:Short stature (adult)]
OMIM: "Short stature (adults)" [OMIM:Short stature (adults)]
OMIM: "Short stature (childhood)" [OMIM:Short stature (childhood)]
OMIM: "Short stature (deletion patients)" [OMIM:Short stature (deletion patients)]
OMIM: "Short stature (female)" [OMIM:Short stature (female)]
OMIM: "Short stature (fifth to tenth centile)" [OMIM:Short stature (fifth to tenth centile)]
OMIM: "Short stature (final adult height less than 152cm)" [OMIM:Short stature (final adult height less than 152cm)]
OMIM: "Short stature (if untreated)" [OMIM:Short stature (if untreated)]
OMIM: "Short stature (in 2 of 3 siblings)" [OMIM:Short stature (in 2 of 3 siblings)]
OMIM: "Short stature (in childhood)" [OMIM:Short stature (in childhood)]
OMIM: "Short stature (in males)" [OMIM:Short stature (in males)]
OMIM: "Short stature (in patients with childhood-onset)" [OMIM:Short stature (in patients with childhood-onset)]
OMIM: "Short stature (in some cases)" [OMIM:Short stature (in some cases)]
OMIM: "Short stature (in some patients)" [OMIM:Short stature (in some patients)]
OMIM: "Short stature (less common)" [OMIM:Short stature (less common)]
OMIM: "Short stature (less than 3rd percentile)" [OMIM:Short stature (less than 3rd percentile)]
OMIM: "Short stature (less than tenth percentile)" [OMIM:Short stature (less than tenth percentile)]
OMIM: "Short stature (males)" [OMIM:Short stature (males)]
OMIM: "Short stature (of varying degrees)" [OMIM:Short stature (of varying degrees)]
OMIM: "Short stature (postnatal onset)" [OMIM:Short stature (postnatal onset)]
OMIM: "Short stature (postnatal onset) (81%)" [OMIM:Short stature (postnatal onset) (81%)]
OMIM: "Short stature (postnatal onset) (97%)" [OMIM:Short stature (postnatal onset) (97%)]
OMIM: "Short stature (rare)" [OMIM:Short stature (rare)]
OMIM: "Short stature (reported in 2 families)" [OMIM:Short stature (reported in 2 families)]
OMIM: "Short stature (some patients)" [OMIM:Short stature (some patients)]
OMIM: "Short stature (some)" [OMIM:Short stature (some)]
OMIM: "Short stature (type II, infantile and juvenile)" [OMIM:Short stature (type II, infantile and juvenile)]
OMIM: "Short stature." [OMIM:Short stature.]
UMLS:C0349588 "Short stature" [Orphanet:53350]
UMLS:C0013336 "Dwarfism" [Orphanet:53350]
Is a (Direct Parents):
MedDRA Metabolic bone disorders
MedDRA Physical examination procedures and organ system status
HPO         Growth delay
HPO         Abnormality of body height
Orphanet Severe short stature
Orphanet Build/stature/longevity anomalies
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Growth abnormality(HPO:0001507)
          Growth delay(HPO:0001510)
             Short stature(HPO:0004322)
          Abnormality of body height(HPO:0000002)
             Short stature(HPO:0004322)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Bone disorders (excl congenital and fractures)(MedDRA:10005959)
       Metabolic bone disorders(MedDRA:10027425)
          Short stature(HPO:0004322)
Investigations(MedDRA:10022891)
    Physical examination and organ system status topics(MedDRA:10071940)
       Physical examination procedures and organ system status(MedDRA:10071941)
          Short stature(HPO:0004322)
Database Frequency: 1232 / 7739
Resource:

All diseases associated with this symptom:

12q14 microdeletion syndrome (Orphanet:94063)
14q22q23 microdeletion syndrome (Orphanet:264200)
15q11q13 microduplication syndrome (Orphanet:238446)
15q13.3 microdeletion syndrome (Orphanet:199318)
15q14 microdeletion syndrome (Orphanet:261190)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
16p13.11 microdeletion syndrome (Orphanet:261236)
17p11.2 microduplication syndrome (Orphanet:1713)
17q11.2 microduplication syndrome (Orphanet:139474)
17q12 microdeletion syndrome (Orphanet:261265)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
19q13.11 microdeletion syndrome (Orphanet:217346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q41q42 microdeletion syndrome (Orphanet:250999)
1q44 microdeletion syndrome (Orphanet:238769)
20p12.3 microdeletion syndrome (Orphanet:261295)
22q11.2 deletion syndrome (Orphanet:567)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2q23.1 microdeletion syndrome (Orphanet:228402)
2q31.1 microdeletion syndrome (Orphanet:251014)
2q32q33 microdeletion syndrome (Orphanet:251019)
2q37 microdeletion syndrome (Orphanet:1001)
3C syndrome (Orphanet:7)
3M syndrome (Orphanet:2616)
46,XX gonadal dysgenesis (Orphanet:243)
49,XXXXY syndrome (Orphanet:96264)
5q35 microduplication syndrome (Orphanet:228415)
6q16 deletion syndrome (Orphanet:171829)
6q25 microdeletion syndrome (Orphanet:251056)
8p11.2 deletion syndrome (Orphanet:251066)
8p23.1 microdeletion syndrome (Orphanet:251071)
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDEDBONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS (OMIM:600908)
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES (OMIM:300887)
AREDYLD syndrome (Orphanet:1133)
ARTERIOSCLEROSIS, SEVERE JUVENILE (OMIM:208060)
ASTHMA, SHORT STATURE, AND ELEVATED IgA (OMIM:208600)
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS ANDDIABETES MELLITUS (OMIM:616192)
ATAXIA-TELANGIECTASIA (OMIM:208900)
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:615952)
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES (OMIM:109120)
Aarskog-Scott syndrome (Orphanet:915)
Abruzzo-Erickson syndrome (Orphanet:921)
Absent thumb - short stature - immunodeficiency (Orphanet:2951)
Absent tibia - polydactyly (Orphanet:988)
Achondrogenesis (Orphanet:932)
Achondrogenesis type 1A (Orphanet:93299)
Achondrogenesis type 1B (Orphanet:93298)
Achondrogenesis type 2 (Orphanet:93296)
Achondroplasia (Orphanet:15)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acro-oto-ocular syndrome (Orphanet:2980)
Acrocapitofemoral dysplasia (Orphanet:63446)
Acrocraniofacial dysostosis (Orphanet:949)
Acrodermatitis enteropathica, zinc deficiency type (Orphanet:37)
Acrodysostosis (Orphanet:950)
Acrofacial dysostosis, Catania type (Orphanet:1786)
Acrofacial dysostosis, Palagonia type (Orphanet:1787)
Acrofacial dysostosis, Rodriguez type (Orphanet:1788)
Acrofacial dysostosis, Weyers type (Orphanet:952)
Acrogeria (Orphanet:2500)
Acromesomelic dysplasia, Grebe type (Orphanet:2098)
Acromesomelic dysplasia, Hunter-Thomson type (Orphanet:968)
Acromesomelic dysplasia, Maroteaux type (Orphanet:40)
Acromicric dysplasia (Orphanet:969)
Adrenomyodystrophy (Orphanet:977)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Aicardi-Goutières syndrome (Orphanet:51)
Albers-Schönberg osteopetrosis (Orphanet:53)
Albright hereditary osteodystrophy (Orphanet:665)
Alopecia - contractures - dwarfism - intellectual deficit (Orphanet:1005)
Alopecia antibody deficiency (Orphanet:1006)
Alopecia-intellectual deficit syndrome (Orphanet:2850)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Alström syndrome (Orphanet:64)
Amelo-cerebro-hypohidrotic syndrome (Orphanet:1946)
Aminopterin/methotrexate embryofetopathy (Orphanet:1908)
Angel-shaped phalango-epiphyseal dysplasia (Orphanet:63442)
Aniridia - renal agenesis - psychomotor retardation (Orphanet:1064)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Aphalangy - syndactyly - microcephaly (Orphanet:1113)
Apparent mineralocorticoid excess (Orphanet:320)
Argininosuccinic aciduria (Orphanet:23)
Aromatase excess syndrome (Orphanet:178345)
Arterial calcification, generalized, of infancy, 1 (OMIM:208000)
Arthrogryposis multiplex congenita - whistling face (Orphanet:1150)
Arthrogryposis with oculomotor limitation and electroretinal anomalies (Orphanet:1154)
Arthrogryposis-like hand anomaly - sensorineural deafness (Orphanet:1144)
Aspartylglucosaminuria (Orphanet:93)
Astley-Kendall dysplasia (Orphanet:85175)
Ataxia - photosensitivity - short stature (Orphanet:1184)
Ataxia-telangiectasia (Orphanet:100)
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy (Orphanet:1192)
Athyreosis (Orphanet:95713)
Atkin-Flaitz syndrome (Orphanet:1193)
Auriculoosteodysplasia (Orphanet:114)
Autoimmune lymphoproliferative syndrome with recurrent infections (Orphanet:275517)
Autosomal dominant Charcot-Marie-Tooth disease type 2C (Orphanet:99937)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant brachyolmia (Orphanet:93304)
Autosomal dominant hypophosphatemic rickets (Orphanet:89937)
Autosomal dominant microcephaly (Orphanet:2514)
Autosomal dominant multiple pterygium syndrome (Orphanet:65743)
Autosomal dominant nonsyndromic intellectual deficit (Orphanet:178469)
Autosomal dominant spastic paraplegia type 9 (Orphanet:100990)
Autosomal dominant spondylocostal dysostosis (Orphanet:1797)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive Stickler syndrome (Orphanet:250984)
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (Orphanet:363429)
Autosomal recessive cerebelloparenchymal disorder type 3 (Orphanet:1170)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (Orphanet:324262)
Autosomal recessive distal osteolysis syndrome (Orphanet:2776)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
Autosomal recessive limb-girdle muscular dystrophy type 2S (Orphanet:369840)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive omodysplasia (Orphanet:93329)
Autosomal recessive primary microcephaly (Orphanet:2512)
Autosomal recessive spastic paraplegia type 20 (Orphanet:101000)
Autosomal recessive spastic paraplegia type 45 (Orphanet:320396)
Autosomal recessive spastic paraplegia type 49 (Orphanet:320385)
Autosomal recessive spastic paraplegia type 54 (Orphanet:320380)
Autosomal recessive spondylocostal dysostosis (Orphanet:2311)
Axial mesodermal dysplasia spectrum (Orphanet:1834)
Axial spondylometaphyseal dysplasia (Orphanet:168549)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
BARTTER SYNDROME, ANTENATAL, TYPE 1 (OMIM:601678)
BARTTER SYNDROME, ANTENATAL, TYPE 2 (OMIM:241200)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET (OMIM:114100)
BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION (OMIM:210050)
BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS (OMIM:610023)
BRACHYDACTYLY, TYPE A1 (OMIM:112500)
BRACHYDACTYLY, TYPE A1, B (OMIM:607004)
BRACHYDACTYLY, TYPE A1, C (OMIM:615072)
BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION (OMIM:613627)
BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II (OMIM:113301)
BRACHYDACTYLY, TYPE E2 (OMIM:613382)
BRUCK SYNDROME 1 (OMIM:259450)
BRUCK SYNDROME 2 (OMIM:609220)
Baller-Gerold syndrome (Orphanet:1225)
Bangstad syndrome (Orphanet:1227)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Baraitser-Winter syndrome (Orphanet:2995)
Bardet-Biedl syndrome (Orphanet:110)
Bardet-Biedl syndrome 1 (OMIM:209900 )
Bardet-Biedl syndrome 12 (OMIM:615989)
Bardet-Biedl syndrome 16 (OMIM:615993)
Bartter syndrome (Orphanet:112)
Bartter syndrome with hypocalcemia (Orphanet:263417)
Biemond syndrome type 2 (Orphanet:141333)
Bird headed-dwarfism, Montreal type (Orphanet:2617)
Blackfan-Diamond anemia (Orphanet:124)
Blepharophimosis - ptosis - esotropia - syndactyly - short stature (Orphanet:2057)
Blepharophimosis - radioulnar synostosis (Orphanet:1256)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, SBBYS type (Orphanet:3047)
Bloom syndrome (Orphanet:125)
Bohring-Opitz syndrome (Orphanet:97297)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
Bonnemann-Meinecke-Reich syndrome (Orphanet:1261)
Boomerang dysplasia (Orphanet:1263)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Bowen-Conradi syndrome (Orphanet:1270)
Brachydactylous dwarfism, Mseleni type (Orphanet:2619)
Brachydactyly - arterial hypertension (Orphanet:1276)
Brachydactyly type A1 (Orphanet:93388)
Brachydactyly type A2 (Orphanet:93396)
Brachydactyly type A4 (Orphanet:93394)
Brachydactyly type A6 (Orphanet:93382)
Brachydactyly type C (Orphanet:93384)
Brachydactyly type E (Orphanet:93387)
Brachymorphism - onychodysplasia - dysphalangism (Orphanet:1292)
Brachyolmia (Orphanet:1293)
Brachyolmia type 1, Hobaek type (Orphanet:93301)
Brachyolmia type 1, Toledo type (Orphanet:93303)
Brachyolmia, Maroteaux type (Orphanet:93302)
Brachyolmia-amelogenesis imperfecta syndrome (Orphanet:2899)
Brachytelephalangic chondrodysplasia punctata (Orphanet:79345)
Braddock syndrome (Orphanet:52047)
Brain calcification, Rajab type (Orphanet:178506)
Brain malformation - congenital heart disease - postaxial polydactyly (Orphanet:75389)
Branchio-oculo-facial syndrome (Orphanet:1297)
Branchiogenic deafness syndrome (Orphanet:50815)
Bruck syndrome (Orphanet:2771)
Bullous dystrophy, macular type (Orphanet:1867)
Buschke-Ollendorff syndrome (Orphanet:1306)
C syndrome (Orphanet:1308)
CAMOS syndrome (Orphanet:83472)
CANDLE syndrome (Orphanet:325004)
CARDIAC MALFORMATION, CLEFT LIP/PALATE, MICROCEPHALY AND DIGITAL ANOMALIES (OMIM:600987)
CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
CARPENTER SYNDROME 1 (OMIM:201000)
CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION (OMIM:300619)
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION (OMIM:601088)
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURALHEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
CEDNIK syndrome (Orphanet:66631)
CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 (OMIM:224050)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2 (OMIM:610185)
CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
CHARGE syndrome (Orphanet:138)
CHILD syndrome (Orphanet:139)
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME (OMIM:215250)
CHROMOSOME 15q25 DELETION SYNDROME (OMIM:614294)
CHROMOSOME 2q31.1 DUPLICATION SYNDROME (OMIM:613681)
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED (OMIM:613544)
CILIARY DYSKINESIA, PRIMARY, 11 (OMIM:612649)
CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
CODAS syndrome (Orphanet:1458)
COFFIN-SIRIS SYNDROME (OMIM:135900)
COFS syndrome (Orphanet:1466)
COLE-CARPENTER SYNDROME 2 (OMIM:616294)
CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
CORNELIA DE LANGE SYNDROME 3 (OMIM:610759)
CORNELIA DE LANGE SYNDROME 4 (OMIM:614701)
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
CRANIOMETADIAPHYSEAL DYSPLASIA (OMIM:269300)
CULLER-JONES SYNDROME (OMIM:615849)
CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Cabezas syndrome (Orphanet:85293)
Campomelia, Cumming type (Orphanet:1318)
Campomelic dysplasia (Orphanet:140)
Camptodactyly - joint contractures - facial skeletal defects (Orphanet:1323)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Camptodactyly syndrome, Guadalajara type 2 (Orphanet:1326)
Cardiocranial syndrome, Pfeiffer type (Orphanet:2872)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cardiospondylocarpofacial syndrome (Orphanet:3238)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carney complex-trismus-pseudocamptodactyly syndrome (Orphanet:319340)
Carpenter syndrome (Orphanet:65759)
Carpenter-Waziri syndrome (Orphanet:93973)
Cartilage-hair hypoplasia (Orphanet:175)
Cat-eye syndrome (Orphanet:195)
Cataract - aberrant oral frenula - growth delay (Orphanet:1373)
Cataract - ataxia - deafness (Orphanet:1368)
Cataract - deafness - hypogonadism (Orphanet:1383)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Cataract - nephropathy - encephalopathy (Orphanet:1380)
Catel-Manzke syndrome (Orphanet:1388)
Caudal appendage - deafness (Orphanet:1123)
Central precocious puberty (Orphanet:759)
Cerebellar ataxia - hypogonadism (Orphanet:1173)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cerebro-reno-digital syndrome (Orphanet:1396)
Childhood-onset hypophosphatasia (Orphanet:247667)
Choanal atresia - deafness - cardiac defects - dysmorphism (Orphanet:1200)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Chondrodysplasia with joint dislocations, gPAPP type (Orphanet:280586)
Chondrodysplasia, Blomstrand type (Orphanet:50945)
Choreoacanthocytosis (Orphanet:2388)
Choroideremia - hypopituitarism (Orphanet:1434)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (Orphanet:90794)
Classic multiminicore myopathy (Orphanet:324604)
Cleft palate - large ears - small head (Orphanet:2013)
Cleft palate - short stature - vertebral anomalies (Orphanet:2015)
Cleidocranial dysplasia (Orphanet:1452)
Cleidorhizomelic syndrome (Orphanet:1453)
Coats plus syndrome (Orphanet:313838)
Cockayne syndrome (Orphanet:191)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Cohen syndrome (Orphanet:193)
Cole-Carpenter syndrome (Orphanet:2050)
Coloboma of macula - brachydactyly type B (Orphanet:1471)
Combined oxidative phosphorylation defect type 15 (Orphanet:319524)
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (Orphanet:90795)
Congenital amegakaryocytic thrombocytopenia (Orphanet:3319)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital dyserythropoietic anemia type IV (Orphanet:293825)
Congenital erythropoietic porphyria (Orphanet:79277)
Congenital hypothyroidism (Orphanet:442)
Congenital laryngeal web (Orphanet:2374)
Congenital non-bullous ichthyosiform erythroderma (Orphanet:79394)
Congenital osteogenesis imperfecta - microcephaly - cataracts (Orphanet:2772)
Congenital pseudoarthrosis of clavicle (Orphanet:66630)
Congenital rubella syndrome (Orphanet:290)
Congenital short bowel syndrome (Orphanet:2301)
Congenital unilateral hypoplasia of depressor anguli oris (Orphanet:1166)
Cooper-Jabs syndrome (Orphanet:1488)
Corneal anesthesia - deafness - intellectual deficit (Orphanet:1051)
Cornelia de Lange syndrome (Orphanet:199)
Cortical blindness - intellectual deficit - polydactyly (Orphanet:1389)
Costello syndrome (Orphanet:3071)
Cowden syndrome (Orphanet:201)
Coxoauricular syndrome (Orphanet:1508)
Craniodiaphyseal dysplasia (Orphanet:1513)
Cranioectodermal dysplasia 2 (OMIM:613610)
Cranioectodermal dysplasia 3 (OMIM:614099)
Cranioectodermal dysplasia 4 (OMIM:614378)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofaciofrontodigital syndrome (Orphanet:363705)
Craniofrontonasal dysplasia (Orphanet:1520)
Craniolenticulosutural dysplasia (Orphanet:50814)
Craniometadiaphyseal dysplasia, wormian bone type (Orphanet:85184)
Craniosynostosis, Herrmann-Opitz type (Orphanet:2145)
Cutis laxa (Orphanet:209)
Cystinosis (Orphanet:213)
DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
DIAMOND-BLACKFAN ANEMIA 10 (OMIM:613309)
DIAMOND-BLACKFAN ANEMIA 11 (OMIM:614900)
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:606164)
DIGEORGE SYNDROME (OMIM:188400)
DK1-CDG (Orphanet:91131)
DWARFISM, FAMILIAL, WITH MUSCLE SPASMS (OMIM:600771)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 (OMIM:613989)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 (OMIM:613990)
Dahlberg-Borer-Newcomer syndrome (Orphanet:1563)
De Barsy syndrome (Orphanet:2962)
Deafness - enamel hypoplasia - nail defects (Orphanet:3220)
Deafness - epiphyseal dysplasia - short stature (Orphanet:3218)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Deafness - vitiligo - achalasia (Orphanet:3239)
Dent disease type 1 (Orphanet:93622)
Dent disease type 2 (Orphanet:93623)
Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit (Orphanet:71267)
Dermato-cardio-skeletal syndrome, Borrone type (Orphanet:1266)
Desbuquois syndrome (Orphanet:1425)
Desmin-related myopathy with Mallory body-like inclusions (Orphanet:84132)
Desmosterolosis (Orphanet:35107)
Developmental malformations - deafness - dystonia (Orphanet:79107)
Diastrophic dwarfism (Orphanet:628)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal arthrogryposis type 5D (Orphanet:329457)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Distal monosomy 10p (Orphanet:1580)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 13q (Orphanet:1590)
Distal monosomy 15q (Orphanet:1596)
Distal monosomy 17q (Orphanet:1597)
Distal monosomy 1q (Orphanet:36367)
Distal monosomy 3p (Orphanet:1620)
Distal monosomy 7q36 (Orphanet:1636)
Distal trisomy 14q (Orphanet:1705)
Distal trisomy 18q (Orphanet:1716)
Distal trisomy 6p (Orphanet:1745)
Down syndrome (Orphanet:870)
Duane anomaly - myopathy - scoliosis (Orphanet:50817)
Dubowitz syndrome (Orphanet:235)
Dwarfism - intellectual deficit - eye abnormality (Orphanet:2650)
Dyggve-Melchior-Clausen disease (Orphanet:239)
Dyschondrosteosis - nephritis (Orphanet:1765)
Dyschromatosis universalis (Orphanet:241)
Dyschromatosis universalis hereditaria 1 (OMIM:127500)
Dyschromatosis universalis hereditaria 2 (OMIM:612715)
Dyschromatosis universalis hereditaris 3 (OMIM:615402)
Dysequilibrium syndrome (Orphanet:1766)
Dyskeratosis congenita (Orphanet:1775)
Dysmorphism - conductive hearing loss - heart defect (Orphanet:289553)
Dysmorphism - short stature - deafness - disorder of sex development (Orphanet:2282)
Dysosteosclerosis (Orphanet:1782)
Dysostosis, Stanescu type (Orphanet:1798)
Dysplastic cortical hyperostosis (Orphanet:2204)
Dyssegmental dysplasia, Silverman-Handmaker type (Orphanet:1865)
Dysspondyloenchondromatosis (Orphanet:85198)
EAST syndrome (Orphanet:199343)
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
EEC syndrome (Orphanet:1896)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 (OMIM:130070)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 (OMIM:616339)
EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY (OMIM:133750)
Ear-patella-short stature syndrome (Orphanet:2554)
Ectodermal dysplasia - blindness (Orphanet:1806)
Ectodermal dysplasia - sensorineural deafness (Orphanet:1883)
Ectodermal dysplasia with natal teeth, Turnpenny type (Orphanet:69083)
Ectodermal dysplasia, Berlin type (Orphanet:1816)
Ehlers-Danlos syndrome type 1 (Orphanet:90309)
Ehlers-Danlos syndrome type 7A (Orphanet:99875)
Ehlers-Danlos syndrome type 7B (Orphanet:99876)
Ehlers-Danlos syndrome, arthrochalasic type (Orphanet:1899)
Ehlers-Danlos syndrome, classic type (Orphanet:287)
Ehlers-Danlos syndrome, dermatosparaxis type (Orphanet:1901)
Ehlers-Danlos syndrome, periodontitis type (Orphanet:75392)
Ehlers-Danlos syndrome, progeroid type (Orphanet:75496)
Ehlers-Danlos syndrome, spondylocheirodysplastic type (Orphanet:157965)
Ehlers-Danlos syndrome, vascular type (Orphanet:286)
Ellis Van Creveld syndrome (Orphanet:289)
Emery-Nelson syndrome (Orphanet:1927)
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria (Orphanet:1035)
Endosteal sclerosis - cerebellar hypoplasia (Orphanet:85186)
Eng-Strom syndrome (Orphanet:1937)
Epidermolysis bullosa simplex with muscular dystrophy (Orphanet:257)
Epilepsy telangiectasia (Orphanet:1951)
Epimetaphyseal skeletal dysplasia (Orphanet:1819)
Epiphyseal dysplasia - hearing loss - dysmorphism (Orphanet:1825)
Ermine phenotype (Orphanet:999)
Erythrokeratodermia variabilis (Orphanet:317)
Extrasystoles - short stature - hyperpigmentation - microcephaly (Orphanet:1964)
Eye defects - arachnodactyly - cardiopathy (Orphanet:2725)
FACES syndrome (Orphanet:1969)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
FANCONI ANEMIA, COMPLEMENTATION GROUP C (OMIM:227645)
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (OMIM:227646)
FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
FANCONI ANEMIA, COMPLEMENTATION GROUP O (OMIM:613390)
FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THEYOUNG (OMIM:616026)
FEINGOLD SYNDROME 2 (OMIM:614326)
FIBROCHONDROGENESIS 1 (OMIM:228520)
FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION ANDPROPORTIONATE SHORT STATURE (OMIM:135950)
FORSYTHE-WAKELING SYNDROME (OMIM:613606)
Fabry disease (Orphanet:324)
Facial dysmorphism - immunodeficiency - livedo - short stature (Orphanet:352712)
Faisalabad histiocytosis (Orphanet:254707)
Fallot complex - intellectual deficit - growth delay (Orphanet:3304)
Familial benign copper deficiency (Orphanet:1551)
Familial clubfoot due to 17q23.1q23.2 microduplication (Orphanet:238578)
Familial isolated hypoparathyroidism (Orphanet:2238)
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland (Orphanet:2239)
Familial osteochondritis dissecans (Orphanet:251262)
Familial thyroid dyshormonogenesis (Orphanet:95716)
Fanconi anemia (Orphanet:84)
Fanconi renotubular syndrome 1 (OMIM:134600)
Farber lipogranulomatosis (Orphanet:333)
Feingold syndrome (Orphanet:1305)
Femoral-facial syndrome (Orphanet:1988)
Femur-fibula-ulna complex (Orphanet:2019)
Fetal alcohol syndrome (Orphanet:1915)
Fetal hydantoin syndrome (Orphanet:1912)
Fetal methylmercury syndrome (Orphanet:1917)
Fibrochondrogenesis (Orphanet:2021)
Fibular aplasia - complex brachydactyly (Orphanet:2639)
Filippi syndrome (Orphanet:3255)
Fine-Lubinsky syndrome (Orphanet:1272)
Floating-Harbor syndrome (Orphanet:2044)
Focal dermal hypoplasia (Orphanet:2092)
Fountain syndrome (Orphanet:3219)
Freeman-Sheldon syndrome (Orphanet:2053)
Fronto-facio-nasal dysostosis (Orphanet:1791)
Frontonasal dysplasia (Orphanet:250)
Fryns-Smeets-Thiry syndrome (Orphanet:2058)
Fucosidosis (Orphanet:349)
Fuhrmann syndrome (Orphanet:2854)
GAPO syndrome (Orphanet:2067)
GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
GM1 gangliosidosis (Orphanet:354)
GM1 gangliosidosis type 3 (Orphanet:79257)
GMS syndrome (Orphanet:2090)
GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGEJOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLARATROPHY (OMIM:608278)
GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL (OMIM:615925)
Galactosialidosis (Orphanet:351)
Galloway-Mowat syndrome (Orphanet:2065)
Gaucher disease (Orphanet:355)
Gaucher disease - ophthalmoplegia - cardiovascular calcification (Orphanet:2072)
Gaucher disease type 3 (Orphanet:77261)
Geleophysic dysplasia (Orphanet:2623)
Gemignani syndrome (Orphanet:2074)
Generalized arterial calcification of infancy (Orphanet:51608)
Generalized peeling skin syndrome (Orphanet:263543)
Genitopatellar syndrome (Orphanet:85201)
German syndrome (Orphanet:2077)
Geroderma osteodysplastica (Orphanet:2078)
Glaucoma - ectopia - microspherophakia - stiff joints - short stature (Orphanet:2084)
Glycogen storage disease due to aldolase A deficiency (Orphanet:57)
Glycogen storage disease due to glucose-6-phosphatase deficiency (Orphanet:364)
Glycogen storage disease due to glucose-6-phosphatase deficiency type a (Orphanet:79258)
Glycogen storage disease due to glucose-6-phosphatase deficiency type b (Orphanet:79259)
Glycogen storage disease due to glycogen debranching enzyme deficiency (Orphanet:366)
Glycogen storage disease due to hepatic glycogen synthase deficiency (Orphanet:2089)
Glycogen storage disease due to liver glycogen phosphorylase deficiency (Orphanet:369)
Glycogen storage disease due to phosphorylase kinase deficiency (Orphanet:370)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Goldblatt syndrome (Orphanet:166272)
Goldenhar syndrome (Orphanet:374)
Gonadal dysgenesis, XY type - associated anomalies (Orphanet:1770)
Gordon syndrome (Orphanet:376)
Gorlin-Chaudhry-Moss syndrome (Orphanet:2095)
Grant syndrome (Orphanet:2097)
Greenberg dysplasia (Orphanet:1426)
Griscelli disease (Orphanet:381)
Grix-Blankenship-Peterson syndrome (Orphanet:2099)
Growth deficiency - brachydactyly - dysmorphism (Orphanet:2055)
Growth delay due to insulin-like growth factor I resistance (Orphanet:73273)
Growth delay due to insulin-like growth factor type 1 deficiency (Orphanet:73272)
Growth hormone insensitivity syndrome (Orphanet:181393)
Gómez-López-Hernández syndrome (Orphanet:1532)
H syndrome (Orphanet:168569)
HAJDU-CHENEY SYNDROME (OMIM:102500)
HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
HOLOPROSENCEPHALY 9 (OMIM:610829)
HUNTER-MACDONALD SYNDROME (OMIM:611962)
HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME (OMIM:236450)
HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
HYPOPHOSPHATEMIC BONE DISEASE (OMIM:146350)
HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM (OMIM:612089)
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Haddad syndrome (Orphanet:99803)
Hall-Riggs syndrome (Orphanet:2107)
Hallermann-Streiff syndrome (Orphanet:2108)
Hamel cerebro-palato-cardiac syndrome (Orphanet:93946)
Hartnup syndrome (Orphanet:2116)
Heart defect - round face - congenital developmental delay (Orphanet:1355)
Heart defects - limb shortening (Orphanet:1354)
Hemimelia (Orphanet:2130)
Hemochromatosis, type 2A (OMIM:602390)
Hennekam-Beemer syndrome (Orphanet:2135)
Hepatic fibrosis - renal cysts - intellectual deficit (Orphanet:2031)
Hereditary acrokeratotic poikiloderma, Weary type (Orphanet:2907)
Hereditary hypophosphatemic rickets with hypercalciuria (Orphanet:157215)
Hidrotic ectodermal dysplasia (Orphanet:189)
Hirschsprung disease (Orphanet:388)
Holmes-Gang syndrome (Orphanet:93970)
Holoprosencephaly - craniosynostosis (Orphanet:2163)
Hoyeraal-Hreidarsson syndrome (Orphanet:3322)
Hunter-McAlpine craniosynostosis (Orphanet:97340)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hutchinson-Gilford progeria syndrome (Orphanet:740)
Hyaluronidase deficiency (Orphanet:67041)
Hydrocephalus - blue sclerae - nephropathy (Orphanet:2186)
Hydrocephalus - obesity - hypogonadism (Orphanet:2183)
Hyperlysinemia, type I (OMIM:238700)
Hypertelorism - hypospadias - polysyndactyly syndrome (Orphanet:2211)
Hypertelorism-microtia-facial clefting syndrome (Orphanet:2213)
Hypertrichosis (Orphanet:79365)
Hypertrichosis cubiti - short stature (Orphanet:2220)
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation (Orphanet:324525)
Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency (Orphanet:2435)
Hypocalcemic vitamin D-resistant rickets (Orphanet:93160)
Hypochondroplasia (Orphanet:429)
Hypogonadism - mitral valve prolapse - intellectual deficit (Orphanet:2233)
Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia (Orphanet:1882)
Hypomyelination with atrophy of basal ganglia and cerebellum (Orphanet:139441)
Hypophosphatasia (Orphanet:436)
Hypophosphatemic rickets (Orphanet:437)
Hypophosphatemic rickets, autosomal recessive, 2 (OMIM:613312)
Hypoplastic tibiae - postaxial polydactyly (Orphanet:3332)
Hypospadias - hypertelorism - coloboma and deafness (Orphanet:157788)
Hypothyroidism due to deficient transcription factors involved in pituitary development or function (Orphanet:226307)
Hypotrichosis with juvenile macular degeneration (Orphanet:1573)
ICF syndrome (Orphanet:2268)
ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS (OMIM:242150)
IMMUNODEFICIENCY 31C (OMIM:614162)
IVIC syndrome (Orphanet:2307)
Ichthyosis - intellectual deficit - dwarfism - renal impairment (Orphanet:2278)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Incontinentia pigmenti (Orphanet:464)
Infantile Refsum disease (Orphanet:772)
Infantile regressive hypertriglyceridemia and hepatosteatosis (Orphanet:300293)
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia (Orphanet:284332)
Iniencephaly (Orphanet:63259)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit - hypoplastic corpus callosum - preauricular tag (Orphanet:1495)
Intellectual deficit - hypotonia - skin hyperpigmentation (Orphanet:3050)
Intellectual deficit - microcephaly - phalangeal - facial abnormalities (Orphanet:3067)
Intellectual deficit - myopathy - short stature - endocrine defect (Orphanet:3068)
Intellectual deficit - polydactyly - uncombable hair (Orphanet:3082)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual deficit, X-linked - cubitus valgus - dysmorphism (Orphanet:85280)
Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - short stature (Orphanet:85331)
Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior (Orphanet:85329)
Intellectual deficit, X-linked - short stature - obesity (Orphanet:3055)
Intellectual deficit, X-linked, Abidi type (Orphanet:85273)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Intellectual deficit, X-linked, Brooks type (Orphanet:3056)
Intellectual deficit, X-linked, Shrimpton type (Orphanet:85324)
Intellectual deficit, X-linked, Snyder type (Orphanet:3063)
Intellectual deficit, X-linked, Stocco Dos Santos type (Orphanet:85288)
Intellectual deficit, X-linked, Vitale type (Orphanet:85289)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome (Orphanet:363611)
Isolated ATP synthase deficiency (Orphanet:254913)
Isolated agammaglobulinemia (Orphanet:229717)
Isolated anterior cervical hypertrichosis (Orphanet:3387)
Isolated glycerol kinase deficiency (Orphanet:408)
Isolated growth hormone deficiency type IB (Orphanet:231671)
Isolated growth hormone deficiency type III (Orphanet:231692)
Isolated osteopoikilosis (Orphanet:166119)
Isolated sedoheptulokinase deficiency (ORPHA:440713)
Isolated spina bifida (Orphanet:823)
Isolated succinate-CoQ reductase deficiency (Orphanet:3208)
Isolated thyrotropin-releasing hormone deficiency (Orphanet:238670)
JMP syndrome (Orphanet:324999)
Jacobsen syndrome (Orphanet:2308)
Jeune syndrome (Orphanet:474)
Johanson-Blizzard syndrome (Orphanet:2315)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Juberg-Hayward syndrome (Orphanet:2319)
Juberg-Marsidi syndrome (Orphanet:93972)
Juvenile Paget disease (Orphanet:2801)
KABUKI SYNDROME 2 (OMIM:300867)
KBG syndrome (Orphanet:2332)
KID syndrome (Orphanet:477)
KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS (OMIM:245160)
Kabuki syndrome (Orphanet:2322)
Kallmann syndrome (Orphanet:478)
Kallmann syndrome - heart disease (Orphanet:2326)
Kearns-Sayre syndrome (Orphanet:480)
Keipert syndrome (Orphanet:2662)
Kenny-Caffey syndrome (Orphanet:2333)
Keratosis follicularis - dwarfism - cerebral atrophy (Orphanet:2339)
Keutel syndrome (Orphanet:85202)
Kleefstra syndrome (Orphanet:261494)
Kniest dysplasia (Orphanet:485)
Koolen-De Vries syndrome (Orphanet:96169)
Kostmann syndrome (Orphanet:99749)
Kyphomelic dysplasia (Orphanet:1801)
LEOPARD SYNDROME 1 (OMIM:151100)
LEOPARD SYNDROME 2 (OMIM:611554)
LEOPARD SYNDROME 3 (OMIM:613707)
LESCH-NYHAN SYNDROME (OMIM:300322)
LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Lamellar ichthyosis (Orphanet:313)
Langer mesomelic dysplasia (Orphanet:2632)
Langer-Giedion syndrome (Orphanet:502)
Laron syndrome (Orphanet:633)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Larynx atresia (Orphanet:1202)
Lateral meningocele syndrome (Orphanet:2789)
Laurence-Moon syndrome (Orphanet:2377)
Legg-Calvé-Perthes disease (Orphanet:2380)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Leprechaunism (Orphanet:508)
Leri pleonosteosis (Orphanet:2900)
Lesch-Nyhan syndrome (Orphanet:510)
Lethal Kniest-like dysplasia (Orphanet:2347)
Lethal Larsen-like syndrome (Orphanet:2371)
Lethal chondrodysplasia, Moerman type (Orphanet:1420)
Lethal congenital contracture syndrome type 1 (Orphanet:1486)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lethal recessive chondrodysplasia (Orphanet:1423)
Leukocyte adhesion deficiency (Orphanet:2968)
Leukocyte adhesion deficiency type II (Orphanet:99843)
Leukoencephalopathy - ataxia - hypodontia - hypomyelination (Orphanet:137639)
Limb body wall complex (Orphanet:2369)
Limb transversal defect - cardiac anomaly (Orphanet:2492)
Linear nevus sebaceus syndrome (Orphanet:2612)
Lipodystrophy - intellectual deficit - deafness (Orphanet:50811)
Low birth weight - dwarfism - dysgammaglobulinemia (Orphanet:2621)
Lowry-MacLean syndrome (Orphanet:2409)
Lowry-Wood syndrome (Orphanet:1824)
Lysinuric protein intolerance (Orphanet:470)
Léri-Weill dyschondrosteosis (Orphanet:240)
MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGEDAPPEARANCE (OMIM:248010)
MACS syndrome (Orphanet:217335)
MASA syndrome (Orphanet:2466)
MEGAEPIPHYSEAL DWARFISM (OMIM:249230)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MEIER-GORLIN SYNDROME 2 (OMIM:613800)
MEIER-GORLIN SYNDROME 3 (OMIM:613803)
MEIER-GORLIN SYNDROME 4 (OMIM:613804)
MEIER-GORLIN SYNDROME 5 (OMIM:613805)
MELAS (Orphanet:550)
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE (OMIM:609037)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 (OMIM:614562)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM (OMIM:606242)
MENTAL RETARDATION, X-LINKED 92 (OMIM:300851)
MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
MERRF (Orphanet:551)
MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION (OMIM:249670)
MGAT2-CDG (Orphanet:79329)
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615414)
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE (OMIM:612947)
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM (OMIM:616033)
MICROHYDRANENCEPHALY (OMIM:605013)
MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
MICROPHTHALMIA, SYNDROMIC 7 (OMIM:309801)
MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
MUCOLIPIDOSIS III GAMMA (OMIM:252605)
MURCS association (Orphanet:2578)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 (OMIM:608840)
MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,AND PSYCHOMOTOR DELAY (OMIM:601347)
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED (OMIM:300580)
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
Macrocephaly - short stature - paraplegia (Orphanet:2427)
Madelung deformity (Orphanet:35688)
Maffucci syndrome (Orphanet:163634)
Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies (Orphanet:2234)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Malonic aciduria (Orphanet:943)
Mandibuloacral dysplasia (Orphanet:2457)
Mandibuloacral dysplasia with type A lipodystrophy (Orphanet:90153)
Mandibuloacral dysplasia with type B lipodystrophy (Orphanet:90154)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Marden-Walker syndrome (Orphanet:2461)
Marinesco-Sjögren syndrome (Orphanet:559)
Marshall syndrome (Orphanet:560)
Maternal hyperthermia induced birth defects (Orphanet:2216)
Matthew-Wood syndrome (Orphanet:2470)
McDonough syndrome (Orphanet:2471)
McKusick-Kaufman syndrome (Orphanet:2473)
McLeod neuroacanthocytosis syndrome (Orphanet:59306)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Menkes disease (Orphanet:565)
Mesomelia-synostoses syndrome (Orphanet:2496)
Mesomelic dwarfism, Nievergelt type (Orphanet:2633)
Mesomelic dwarfism, Reinhardt-Pfeiffer type (Orphanet:2634)
Mesomelic dysplasia, Kantaputra type (Orphanet:1836)
Mesomelic dysplasia, Savarirayan type (Orphanet:85170)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal anadysplasia (Orphanet:1040)
Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067)
Metaphyseal chondrodysplasia, Schmid type (Orphanet:174)
Metaphyseal chondrodysplasia, Spahr type (Orphanet:2501)
Metaphyseal dysostosis - intellectual deficit - conductive deafness (Orphanet:2502)
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty (Orphanet:2504)
Metatropic dysplasia (Orphanet:2635)
Methylmalonic acidemia with homocystinuria, type cblX (Orphanet:369962)
Mevalonic aciduria (Orphanet:29)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Micro syndrome (Orphanet:2510)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type (Orphanet:85172)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephalic primordial dwarfism, Alazami type (Orphanet:319671)
Microcephalic primordial dwarfism, Toriello type (Orphanet:2643)
Microcephaly - brachydactyly - kyphoscoliosis (Orphanet:3433)
Microcephaly - cervical spine fusion anomalies (Orphanet:2522)
Microcephaly - deafness - intellectual deficit (Orphanet:2533)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microcephaly - intellectual deficit - phalangeal and neurological anomalies (Orphanet:137658)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microcephaly-cardiomyopathy syndrome (Orphanet:2515)
Microcephaly-microcornea syndrome, Seemanova type (Orphanet:2528)
Microform holoprosencephaly (Orphanet:280200)
Microlissencephaly (Orphanet:1083)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Microphthalmia, Lenz type (Orphanet:568)
Microspherophakia - metaphyseal dysplasia (Orphanet:2551)
Mietens syndrome (Orphanet:2557)
Mikati-Najjar-Sahli syndrome (Orphanet:2558)
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis (Orphanet:93279)
Mirror polydactyly - vertebral segmentation - limbs defects (Orphanet:3004)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mitochondrial myopathy - lactic acidosis - deafness (Orphanet:2597)
Mononen-Karnes-Senac syndrome (Orphanet:2565)
Monosomy 13q14 (Orphanet:1587)
Monosomy 18p (Orphanet:1598)
Monosomy 18q (Orphanet:1600)
Monosomy 5p (Orphanet:281)
Mosaic trisomy 14 (Orphanet:1703)
Mosaic trisomy 8 (Orphanet:96061)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mowat-Wilson syndrome (Orphanet:2152)
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism (Orphanet:280679)
Moynahan syndrome (Orphanet:2574)
Muckle-Wells syndrome (Orphanet:575)
Mucolipidosis type 2 (Orphanet:576)
Mucolipidosis type 3 (Orphanet:577)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 2, attenuated form (Orphanet:217093)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
Mucopolysaccharidosis type 4 (Orphanet:582)
Mucopolysaccharidosis type 6 (Orphanet:583)
Mucopolysaccharidosis type 7 (Orphanet:584)
Mulibrey nanism (Orphanet:2576)
Mullerian duct anomalies - limb anomalies (Orphanet:2491)
Multiple benign circumferential skin creases on limbs (Orphanet:2505)
Multiple epiphyseal dysplasia (Orphanet:251)
Multiple epiphyseal dysplasia due to collagen 9 anomaly (Orphanet:166002)
Multiple epiphyseal dysplasia type 1 (Orphanet:93308)
Multiple epiphyseal dysplasia type 4 (Orphanet:93307)
Multiple epiphyseal dysplasia type 5 (Orphanet:93311)
Multiple epiphyseal dysplasia, Beighton type (Orphanet:166011)
Multiple epiphyseal dysplasia, Lowry type (Orphanet:166016)
Multiple epiphyseal dysplasia, with miniepiphyses (Orphanet:166032)
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia (Orphanet:166029)
Multiple osteochondromas (Orphanet:321)
Multiple sulfatase deficiency (Orphanet:585)
Muscular pseudohypertrophy - hypothyroidism (Orphanet:2349)
Myhre syndrome (Orphanet:2588)
Myopathy - growth delay - intellectual deficit - hypospadias (Orphanet:2601)
Myosclerosis (Orphanet:289380)
Myotonia permanens (Orphanet:99735)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE (OMIM:616022)
NOONAN SYNDROME 1 (OMIM:163950)
NOONAN SYNDROME 3 (OMIM:609942)
NOONAN SYNDROME 4 (OMIM:610733)
NOONAN SYNDROME 5 (OMIM:611553)
NOONAN SYNDROME 6 (OMIM:613224)
NOONAN SYNDROME 7 (OMIM:613706)
NOONAN SYNDROME 8 (OMIM:615355)
Nager syndrome (Orphanet:245)
Nail-patella syndrome (Orphanet:2614)
Nail-patella-like renal disease (Orphanet:2613)
Nakajo-Nishimura syndrome (Orphanet:2615)
Nathalie syndrome (Orphanet:2663)
Native American myopathy (Orphanet:168572)
Navajo neurohepatopathy (Orphanet:255229)
Neonatal adrenoleukodystrophy (Orphanet:44)
Neonatal severe primary hyperparathyroidism (Orphanet:417)
Nephrogenic diabetes insipidus (Orphanet:223)
Nephrogenic diabetes insipidus - intracranial calcification (Orphanet:3145)
Nephronophthisis 1 (OMIM:256100)
Nephronophthisis 2 (OMIM:602088)
Nestor-Guillermo progeria syndrome (Orphanet:280576)
Netherton syndrome (Orphanet:634)
Neuralgic amyotrophy (Orphanet:2901)
Neuroectodermal syndrome, Johnson type (Orphanet:2316)
Neuroectodermal-endocrine syndrome (Orphanet:2676)
Neurofaciodigitorenal syndrome (Orphanet:2673)
Neurofibromatosis - Noonan syndrome (Orphanet:638)
Neurofibromatosis type 1 (Orphanet:636)
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion (Orphanet:363700)
Neutral lipid storage disease (Orphanet:165)
Neutral lipid storage myopathy (Orphanet:98908)
Niemann-Pick disease type A (Orphanet:77292)
Niemann-Pick disease type B (Orphanet:77293)
Niemann-Pick disease type E (Orphanet:99022)
Nijmegen breakage syndrome (Orphanet:647)
Nijmegen breakage syndrome-like disorder (Orphanet:240760)
Non-acquired isolated growth hormone deficiency (Orphanet:631)
Non-distal trisomy 10q (Orphanet:1695)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Nonacquired combined pituitary hormone deficiency with spine abnormalities (Orphanet:231720)
Noonan syndrome (Orphanet:648)
Noonan syndrome with multiple lentigines (Orphanet:500)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
OROFACIODIGITAL SYNDROME VI (OMIM:277170)
OSLAM syndrome (Orphanet:2760)
OSTEOGENESIS IMPERFECTA, TYPE V (OMIM:610967)
OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
OSTEOGENESIS IMPERFECTA, TYPE XI (OMIM:610968)
OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
OSTEOGENESIS IMPERFECTA, TYPE XV (OMIM:615220)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
OTOFACIOOSSEOUS-GONADAL SYNDROME (OMIM:601976)
OVARIAN DYSGENESIS 4 (OMIM:616185)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Oculo-reno-cerebellar syndrome (Orphanet:2715)
Oculo-skeletal-renal syndrome (Orphanet:2716)
Oculoauriculovertebral spectrum with radial defects (Orphanet:2549)
Oculocerebral hypopigmentation syndrome, Cross type (Orphanet:2719)
Oculocerebral hypopigmentation syndrome, Preus type (Orphanet:2720)
Oculocerebrorenal syndrome (Orphanet:534)
Oculofaciocardiodental syndrome (Orphanet:2712)
Oculomaxillofacial dysostosis (Orphanet:1794)
Oculoosteocutaneous syndrome (Orphanet:2713)
Oculotrichodysplasia (Orphanet:2718)
Omodysplasia (Orphanet:2733)
Omphalocele syndrome, Shprintzen-Goldberg type (Orphanet:3164)
Opsismodysplasia (Orphanet:2746)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Orofaciodigital syndrome type 2 (Orphanet:2751)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Orofaciodigital syndrome type 8 (Orphanet:2755)
Orofaciodigital syndrome type 9 (Orphanet:141007)
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa (Orphanet:2653)
Osteocraniostenosis (Orphanet:2763)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteogenesis imperfecta (Orphanet:666)
Osteogenesis imperfecta type 4 (Orphanet:216820)
Osteogenesis imperfecta type 5 (Orphanet:216828)
Osteoglophonic dwarfism (Orphanet:2645)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Osteopetrosis with renal tubular acidosis (Orphanet:2785)
Osteoporosis - pseudoglioma (Orphanet:2788)
Otofaciocervical syndrome (Orphanet:2792)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 1 (Orphanet:90650)
Otopalatodigital syndrome type 2 (Orphanet:90652)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)
Oxoglutaricaciduria (Orphanet:31)
PAGOD syndrome (Orphanet:991)
PALANT CLEFT PALATE SYNDROME (OMIM:260150)
PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS (OMIM:600399)
PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
PGM1-CDG (Orphanet:319646)
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
PITUITARY HORMONE DEFICIENCY, COMBINED, 2 (OMIM:262600)
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY (OMIM:602342)
POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
PYGMY (OMIM:265850)
Pallister-Hall syndrome (Orphanet:672)
Panhypopituitarism (Orphanet:90695)
Parana hard-skin syndrome (Orphanet:2812)
Paraplegia - brachydactyly - cone-shaped epiphysis (Orphanet:2823)
Parastremmatic dwarfism (Orphanet:2646)
Pectus excavatum - macrocephaly - dysplastic nails (Orphanet:2835)
Peeling skin syndrome type B (Orphanet:263553)
Pelizaeus-Merzbacher disease (Orphanet:702)
Pellagra-like skin rash-neurological manifestations (Orphanet:2837)
Pelvis-shoulder dysplasia (Orphanet:2839)
Pentasomy X (Orphanet:11)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Peripheral dysostosis (Orphanet:1795)
Permanent congenital hypothyroidism (Orphanet:226292)
Perrault Syndrome (Orphanet:2855)
Perrault Syndrome 3 (OMIM:614129)
Peters-plus syndrome (Orphanet:709)
Pfeiffer syndrome (Orphanet:710)
Pfeiffer-Palm-Teller syndrome (Orphanet:2871)
Phocomelia - ectrodactyly - deafness - sinus arrhythmia (Orphanet:2878)
Phocomelia, Schinzel type (Orphanet:2879)
Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (Orphanet:254723)
Pilotto syndrome (Orphanet:2894)
Pituitary stalk interruption syndrome (Orphanet:95496)
Platyspondylic dysplasia, Torrance type (Orphanet:85166)
Poikiloderma with neutropenia (Orphanet:221046)
Polyneuropathy - intellectual deficit - acromicria - premature menopause (Orphanet:2928)
Polyvalvular heart disease syndrome (Orphanet:228410)
Pontocerebellar hypoplasia type 3 (Orphanet:97249)
Postaxial polydactyly - dental and vertebral anomalies (Orphanet:2916)
Prader-Willi syndrome (Orphanet:739)
Preaxial polydactyly - colobomata - intellectual deficit (Orphanet:2921)
Premature chromosome condensation with microcephaly and intellectual deficit (Orphanet:52183)
Primary Fanconi syndrome (Orphanet:3337)
Primary congenital hypothyroidism (Orphanet:226295)
Primary hyperoxaluria (Orphanet:416)
Primary immunodeficiency syndrome due to p14 deficiency (Orphanet:90023)
Primary pigmented nodular adrenocortical disease (Orphanet:189439)
Progeria - short stature - pigmented nevi (Orphanet:2959)
Progeroid syndrome, Petty type (Orphanet:2963)
Progressive familial intrahepatic cholestasis (Orphanet:172)
Progressive familial intrahepatic cholestasis type 1 (Orphanet:79306)
Progressive familial intrahepatic cholestasis type 2 (Orphanet:79304)
Progressive pseudorheumatoid arthropathy of childhood (Orphanet:1159)
Propionic acidemia (Orphanet:35)
Proteasome disability syndrome (Orphanet:324977)
Proximal renal tubular acidosis (Orphanet:47159)
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia (Orphanet:3390)
Pseudoachondroplasia (Orphanet:750)
Pseudoaminopterin syndrome (Orphanet:221120)
Pseudohypoaldosteronism type 2 (Orphanet:757)
Pseudohypoparathyroidism type 1A (Orphanet:79443)
Pseudohypoparathyroidism type 1C (Orphanet:79444)
Pseudoprogeria syndrome (Orphanet:2985)
Pseudopseudohypoparathyroidism (Orphanet:79445)
Ptosis - vocal cord paralysis (Orphanet:2997)
Pycnodysostosis (Orphanet:763)
Pyknoachondrogenesis (Orphanet:3003)
RAPADILINO syndrome (Orphanet:3021)
RAPP-HODGKIN SYNDROME (OMIM:129400)
RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
RFT1-CDG (Orphanet:244310)
RIDDLE SYNDROME (OMIM:611943)
RIENHOFF SYNDROME (OMIM:615582)
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
RUIJS-AALFS SYNDROME (OMIM:616200)
Rabson-Mendenhall syndrome (Orphanet:769)
Radio-renal syndrome (Orphanet:3015)
Ramon syndrome (Orphanet:3019)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Renpenning syndrome (Orphanet:3242)
Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications (Orphanet:3018)
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism (Orphanet:3085)
Rett syndrome (Orphanet:778)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic syndrome, Urbach type (Orphanet:3098)
Richieri Costa-Pereira syndrome (Orphanet:3102)
Richieri Costa-da Silva syndrome (Orphanet:3101)
Rigid spine syndrome (Orphanet:97244)
Ring chromosome 6 (Orphanet:1448)
Roberts syndrome (Orphanet:3103)
Robinow-like syndrome (Orphanet:3105)
Rombo syndrome (Orphanet:3110)
Rosaï-Dorfman disease (Orphanet:158014)
Rothmund-Thomson syndrome (Orphanet:2909)
Rothmund-Thomson syndrome type 1 (Orphanet:221008)
Rubinstein-Taybi syndrome (Orphanet:783)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
Ruvalcaba syndrome (Orphanet:3121)
SANTOS SYNDROME (OMIM:613005)
SATOYOSHI SYNDROME (OMIM:600705)
SC PHOCOMELIA SYNDROME (OMIM:269000)
SCHAAF-YANG SYNDROME (OMIM:615547)
SCHIZOPHRENIA 1 (OMIM:181510)
SECKEL SYNDROME 4 (OMIM:613676)
SECKEL SYNDROME 6 (OMIM:614728)
SECKEL SYNDROME 8 (OMIM:615807)
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES (OMIM:602471)
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
SHORT STATURE-OBESITY SYNDROME (OMIM:269870)
SHORT syndrome (Orphanet:3163)
SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION (OMIM:612447)
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL (OMIM:602613)
SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION (OMIM:182255)
SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
SPINAL DYSPLASIA, ANHALT TYPE (OMIM:601344)
SPONASTRIME dysplasia (Orphanet:93357)
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE (OMIM:271600)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
STEEL SYNDROME (OMIM:615155)
Saccharopinuria (Orphanet:3124)
Saethre-Chotzen syndrome (Orphanet:794)
Sakati-Nyhan syndrome (Orphanet:3128)
Saldino-Mainzer syndrome (Orphanet:140969)
Sanjad-Sakati syndrome (Orphanet:2323)
Satoyoshi syndrome (Orphanet:3130)
Say-Barber-Miller syndrome (Orphanet:3132)
Say-Field-Coldwell syndrome (Orphanet:3133)
Scheie syndrome (Orphanet:93474)
Schilbach-Rott syndrome (Orphanet:2353)
Schimke immuno-osseous dysplasia (Orphanet:1830)
Schneckenbecken dysplasia (Orphanet:3144)
Schwartz-Jampel syndrome (Orphanet:800)
Seckel syndrome (Orphanet:808)
Senior-Loken syndrome (Orphanet:3156)
Senior-Loken syndrome 5 (OMIM:609254)
Septo-optic dysplasia (Orphanet:3157)
Sheldon-Hall syndrome (Orphanet:1147)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Short stature - deafness - neutrophil dysfunction - dysmorphism (Orphanet:2866)
Short stature - heart defect - craniofacial anomalies (Orphanet:1088)
Short stature - intellectual deficit - eye anomalies - cleft lip/palate (Orphanet:2649)
Short stature - pituitary and cerebellar defects - small sella turcica (Orphanet:85442)
Short stature - valvular heart disease - characteristic facies (Orphanet:2868)
Short stature - webbed neck - heart disease (Orphanet:2865)
Short stature - wormian bones - dextrocardia (Orphanet:2863)
Short stature due to GHSR deficiency (Orphanet:314811)
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia (Orphanet:632)
Short stature due to partial GHR deficiency (Orphanet:314802)
Short stature, Brussels type (Orphanet:2867)
Short-limb skeletal dysplasia with severe combined immunodeficiency (Orphanet:935)
Short-rib thoracic dysplasia 1 with or without polydactyly (OMIM:208500)
Short-rib thoracic dysplasia 10 with or without polydactyly (OMIM:615630)
Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM:613091)
Short-rib thoracic dysplasia 4 with or without polydactyly (OMIM:613819)
Short-rib thoracic dysplasia 5 with or without polydactyly (OMIM:614376)
Short-rib thoracic dysplasia 8 with or without polydactyly (OMIM:615503)
Shoulder and girdle defects - familial intellectual deficit (Orphanet:2580)
Shox-related short stature (Orphanet:314795)
Shwachman-Diamond syndrome (Orphanet:811)
Sialidosis type 1 (Orphanet:812)
Sialidosis type 2 (Orphanet:87876)
Silver-Russell syndrome (Orphanet:813)
Singleton-Merten dysplasia (Orphanet:85191)
Sjögren-Larsson syndrome (Orphanet:816)
Skeletal dysplasia - epilepsy - short stature (Orphanet:1858)
Skeletal dysplasia - intellectual deficit (Orphanet:1436)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Smith-Magenis syndrome (Orphanet:819)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
Sparse hair - short stature - skin anomalies (Orphanet:79132)
Spastic paraparesis - deafness (Orphanet:2815)
Spastic paraplegia - nephritis - deafness (Orphanet:2820)
Spastic paraplegia 63, autosomal recessive (OMIM:615686)
Spinocerebellar ataxia - dysmorphism (Orphanet:1185)
Spondylo-ocular syndrome (Orphanet:85194)
Spondyloenchondrodysplasia (Orphanet:1855)
Spondyloepimetaphyseal dysplasia congenita, Strudwick type (Orphanet:93346)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Orphanet:93360)
Spondyloepimetaphyseal dysplasia, Bieganski type (Orphanet:168448)
Spondyloepimetaphyseal dysplasia, Missouri type (Orphanet:93356)
Spondyloepimetaphyseal dysplasia, Pakistani type (Orphanet:93282)
Spondyloepimetaphyseal dysplasia, Shohat type (Orphanet:93352)
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia (Orphanet:253)
Spondyloepiphyseal dysplasia congenita (Orphanet:94068)
Spondyloepiphyseal dysplasia tarda (Orphanet:93284)
Spondyloepiphyseal dysplasia, Kimberley type (Orphanet:93283)
Spondyloepiphyseal dysplasia, MacDermot type (Orphanet:163668)
Spondyloepiphyseal dysplasia, Reardon type (Orphanet:163662)
Spondylometaphyseal dysplasia (Orphanet:254)
Spondylometaphyseal dysplasia - cone-rod dystrophy (Orphanet:85167)
Spondylometaphyseal dysplasia, 'corner fracture' type (Orphanet:93315)
Spondylometaphyseal dysplasia, A4 type (Orphanet:168555)
Spondylometaphyseal dysplasia, Kozlowski type (Orphanet:93314)
Spondylometaphyseal dysplasia, Schmidt type (Orphanet:93316)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
Spondyloperipheral dysplasia - short ulna (Orphanet:1856)
Stern-Lubinsky-Durrie syndrome (Orphanet:3194)
Stickler syndrome (Orphanet:828)
Stiff skin syndrome (Orphanet:2833)
Stimmler syndrome (Orphanet:3199)
Stoll-Alembik-Finck syndrome (Orphanet:3200)
Stormorken-Sjaastad-Langslet syndrome (Orphanet:3204)
Stüve-Wiedemann syndrome (Orphanet:3206)
Suarez-Stickler syndrome (Orphanet:166277)
Subaortic stenosis - short stature (Orphanet:3191)
Symptomatic form of Coffin-Lowry syndrome in female carriers (Orphanet:276630)
Syndactyly - telecanthus - anogenital and renal malformations (Orphanet:140952)
Syndrome with brachydactyly (Orphanet:69028)
Syndromic X-linked ichthyosis (Orphanet:281090)
Syndromic X-linked intellectual deficit 7 (Orphanet:85274)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
Syndromic diarrhea (Orphanet:84064)
Syndromic microphthalmia type 5 (Orphanet:178364)
Syngnathia multiple anomalies (Orphanet:3262)
Synostosis - microcephaly - scoliosis (Orphanet:3268)
THAI SYMPHALANGISM SYNDROME (OMIM:608028)
THORACOPELVIC DYSOSTOSIS (OMIM:187770)
THREE M SYNDROME 1 (OMIM:273750)
THREE M SYNDROME 2 (OMIM:612921)
THREE M SYNDROME 3 (OMIM:614205)
TMCO1 defect syndrome (Orphanet:228407)
TMEM165-CDG (Orphanet:314667)
TOOTH AGENESIS, SELECTIVE, 6 (OMIM:613097)
TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE (OMIM:601675)
Tarsal-carpal coalition syndrome (Orphanet:1412)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Tetrasomy 12p (Orphanet:884)
Thalidomide embryopathy (Orphanet:3312)
Thanatophoric dysplasia (Orphanet:2655)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thanatophoric dysplasia type 2 (Orphanet:93274)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)
Thoracic dysplasia-hydrocephalus syndrome (Orphanet:1861)
Thoracomelic dysplasia (Orphanet:1803)
Thrombocytopenia - Robin sequence (Orphanet:3323)
Thrombocytopenia - absent radius (Orphanet:3320)
Thumb deformity - alopecia - pigmentation anomaly (Orphanet:2251)
Thyroid ectopia (Orphanet:95712)
Thyroid hypoplasia (Orphanet:95720)
Toluene embryopathy (Orphanet:1920)
Torg-Winchester syndrome (Orphanet:3460)
Toriello-Carey syndrome (Orphanet:3338)
Townes-Brocks syndrome (Orphanet:857)
Transketolase deficiency (ORPHA:488618)
Tricho-oculo-dermo-vertebral syndrome (Orphanet:3354)
Trichomegaly - retina pigmentary degeneration - dwarfism (Orphanet:3363)
Trichorhinophalangeal syndrome type 1 and 3 (Orphanet:77258)
Trigonocephaly - short stature - developmental delay (Orphanet:3369)
Triple A syndrome (Orphanet:869)
Trismus - pseudocamptodactyly (Orphanet:3377)
Trisomy 12p (Orphanet:1699)
Trisomy 17p (Orphanet:261290)
Trisomy 18 (Orphanet:3380)
Trisomy 4p (Orphanet:1738)
Trisomy 5p (Orphanet:1742)
Trisomy Xq28 (Orphanet:1762)
Turner syndrome (Orphanet:881)
Ulbright-Hodes syndrome (Orphanet:3404)
Ulna hypoplasia - intellectual deficit (Orphanet:2249)
Ulna metaphyseal dysplasia syndrome (Orphanet:1837)
Ulnar-mammary syndrome (Orphanet:3138)
Ulnar/fibula ray defect - brachydactyly (Orphanet:52056)
Urban-Rogers-Meyer syndrome (Orphanet:3409)
Urocanic aciduria (Orphanet:210128)
VELOCARDIOFACIAL SYNDROME (OMIM:192430)
VERHEIJ SYNDROME (OMIM:615583)
Van den Bosch syndrome (Orphanet:3417)
Velo-facial-skeletal syndrome (Orphanet:3424)
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence (Orphanet:3201)
Vici syndrome (Orphanet:1493)
Vogt-Koyanagi-Harada disease (Orphanet:3437)
W syndrome (Orphanet:2804)
WAGR syndrome (Orphanet:893)
WARBURG MICRO SYNDROME 1 (OMIM:600118)
WEILL-MARCHESANI SYNDROME 3 (OMIM:614819)
WEILL-MARCHESANI-LIKE SYNDROME (OMIM:613195)
WIDOW'S PEAK SYNDROME (OMIM:314570)
Watson syndrome (Orphanet:3444)
Weill-Marchesani syndrome (Orphanet:3449)
Weismann-Netter syndrome (Orphanet:3344)
Werner syndrome (Orphanet:902)
White matter hypoplasia - corpus callosum agenesis - intellectual deficit (Orphanet:3207)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Wiedemann-Steiner syndrome (Orphanet:319182)
Williams syndrome (Orphanet:904)
Wilson-Turner syndrome (Orphanet:3459)
Wolcott-Rallison syndrome (Orphanet:1667)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wolfram syndrome 1 (OMIM:222300)
Wrinkly skin syndrome (Orphanet:2834)
X-linked Ehlers-Danlos syndrome (Orphanet:75497)
X-linked agammaglobulinemia (Orphanet:47)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
X-linked dominant chondrodysplasia, Chassaing-Lacombe type (Orphanet:163966)
X-linked hypophosphatemia (Orphanet:89936)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
X-linked intellectual deficit, Golabi-Ito-Hall type (Orphanet:93947)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked intellectual disability due to GRIA3 anomalies (Orphanet:364028)
X-linked intellectual disability-retinitis pigmentosa syndrome (Orphanet:85332)
X-linked mandibulofacial dysostosis (Orphanet:1131)
Xeroderma pigmentosum (Orphanet:910)
Xeroderma pigmentosum complementation group B (Orphanet:276252)
Xeroderma pigmentosum complementation group F (Orphanet:276264)
Xeroderma pigmentosum/Cockayne syndrome complex (Orphanet:220295)
Xp22.3 microdeletion syndrome (Orphanet:1643)
Xq27.3q28 duplication syndrome (Orphanet:261483)
Yunis-Varon syndrome (Orphanet:3472)
Zellweger syndrome (Orphanet:912)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)
[DEL] GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
[DEL] RENAL TUBULAR ACIDOSIS, PROXIMAL (OMIM:179830)