Scoliosis

Symptom Information:

Symptom ID: HPO:0002650
Synonyms:
Scoliosis deformity of spine [HPO:0002650]
Scoliosis deformity of spine (disorder) [Orphanet:16120]
Acquired scoliosis (disorder) [Orphanet:16120]
Scoliosis [Orphanet:16120]
Scoliosis, unspecified [Orphanet:16120]
Scoliosis [OMIM:Scoliosis]
Scoliosis [MedDRA:10039722]
Kyphoscoliosis and scoliosis [MedDRA:10039722]
Other kyphoscoliosis and scoliosis [MedDRA:10039722]
Progressive infantile idiopathic scoliosis [MedDRA:10039722]
Resolving infantile idiopathic scoliosis [MedDRA:10039722]
Scoliosis (and kyphoscoliosis), idiopathic [MedDRA:10039722]
Scoliosis associated with other conditions [MedDRA:10039722]
Thoracogenic scoliosis [MedDRA:10039722]
Rotoscoliosis [MedDRA:10039722]
Scoliosis (1 patient) [OMIM:Scoliosis (1 patient)]
Scoliosis (22% of patients) [OMIM:Scoliosis (22% of patients)]
Scoliosis (23%) [OMIM:Scoliosis (23%)]
Scoliosis (35%) [OMIM:Scoliosis (35%)]
Scoliosis (43%) [OMIM:Scoliosis (43%)]
Scoliosis (47% of adults) [OMIM:Scoliosis (47% of adults)]
Scoliosis (5/8 patients) [OMIM:Scoliosis (5/8 patients)]
Scoliosis (64%) [OMIM:Scoliosis (64%)]
Scoliosis (77%) [OMIM:Scoliosis (77%)]
Scoliosis (9 of 22) [OMIM:Scoliosis (9 of 22)]
Scoliosis (MEB) [OMIM:Scoliosis (MEB)]
Scoliosis (in 1 of 6 patients) [OMIM:Scoliosis (in 1 of 6 patients)]
Scoliosis (in 1 patient) [OMIM:Scoliosis (in 1 patient)]
Scoliosis (in 2 of 3 patients) [OMIM:Scoliosis (in 2 of 3 patients)]
Scoliosis (in 2 patients) [OMIM:Scoliosis (in 2 patients)]
Scoliosis (in 25%) [OMIM:Scoliosis (in 25%)]
Scoliosis (in some male patients) [OMIM:Scoliosis (in some male patients)]
Scoliosis (in some patients) [OMIM:Scoliosis (in some patients)]
Scoliosis (in those with early onset) [OMIM:Scoliosis (in those with early onset)]
Scoliosis (less common) [OMIM:Scoliosis (less common)]
Scoliosis (onset around puberty) [OMIM:Scoliosis (onset around puberty)]
Scoliosis (progressive) [OMIM:Scoliosis (progressive)]
Scoliosis (rare) [OMIM:Scoliosis (rare)]
Scoliosis. [OMIM:Scoliosis.]
Scoliosis may occur [OMIM,du]
Quality:
Cross references:
Orphanet:16120 "Scoliosis" [Orphanet:16120]
OMIM: "Scoliosis" [OMIM:Scoliosis]
OMIM: "Scoliosis (1 patient)" [OMIM:Scoliosis (1 patient)]
OMIM: "Scoliosis (22% of patients)" [OMIM:Scoliosis (22% of patients)]
OMIM: "Scoliosis (23%)" [OMIM:Scoliosis (23%)]
OMIM: "Scoliosis (35%)" [OMIM:Scoliosis (35%)]
OMIM: "Scoliosis (43%)" [OMIM:Scoliosis (43%)]
OMIM: "Scoliosis (47% of adults)" [OMIM:Scoliosis (47% of adults)]
OMIM: "Scoliosis (5/8 patients)" [OMIM:Scoliosis (5/8 patients)]
OMIM: "Scoliosis (64%)" [OMIM:Scoliosis (64%)]
OMIM: "Scoliosis (77%)" [OMIM:Scoliosis (77%)]
OMIM: "Scoliosis (9 of 22)" [OMIM:Scoliosis (9 of 22)]
OMIM: "Scoliosis (MEB)" [OMIM:Scoliosis (MEB)]
OMIM: "Scoliosis (in 1 of 6 patients)" [OMIM:Scoliosis (in 1 of 6 patients)]
OMIM: "Scoliosis (in 1 patient)" [OMIM:Scoliosis (in 1 patient)]
OMIM: "Scoliosis (in 2 of 3 patients)" [OMIM:Scoliosis (in 2 of 3 patients)]
OMIM: "Scoliosis (in 2 patients)" [OMIM:Scoliosis (in 2 patients)]
OMIM: "Scoliosis (in 25%)" [OMIM:Scoliosis (in 25%)]
OMIM: "Scoliosis (in some male patients)" [OMIM:Scoliosis (in some male patients)]
OMIM: "Scoliosis (in some patients)" [OMIM:Scoliosis (in some patients)]
OMIM: "Scoliosis (in those with early onset)" [OMIM:Scoliosis (in those with early onset)]
OMIM: "Scoliosis (less common)" [OMIM:Scoliosis (less common)]
OMIM: "Scoliosis (onset around puberty)" [OMIM:Scoliosis (onset around puberty)]
OMIM: "Scoliosis (progressive)" [OMIM:Scoliosis (progressive)]
OMIM: "Scoliosis (rare)" [OMIM:Scoliosis (rare)]
OMIM: "Scoliosis." [OMIM:Scoliosis.]
UMLS:C0700208 "Scoliosis" [HPO:0002650]
UMLS:C0036439 "Scoliosis, unspecified" [Orphanet:16120]
Is a (Direct Parents):
MedDRA Thoracic musculoskeletal disorders
HPO         Abnormality of the curvature of the vertebral column
Orphanet Abnormality of the vertebral column
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal axial skeleton morphology(HPO:0009121)
                Abnormality of the vertebral column(HPO:0000925)
                   Abnormality of the curvature of the vertebral column(HPO:0010674)
                      Scoliosis(HPO:0002650)
MedDRA:
Respiratory, thoracic and mediastinal disorders(MedDRA:10038738)
    Thoracic disorders (excl lung and pleura)(MedDRA:10013369)
       Thoracic musculoskeletal disorders(MedDRA:10043475)
          Scoliosis(HPO:0002650)
Database Frequency: 705 / 7739
Resource:

All diseases associated with this symptom:

12q14 microdeletion syndrome (Orphanet:94063)
14q12 microdeletion syndrome (Orphanet:261144)
15q14 microdeletion syndrome (Orphanet:261190)
15q24 microdeletion syndrome (Orphanet:94065)
16q24.3 microdeletion syndrome (Orphanet:261250)
17p11.2 microduplication syndrome (Orphanet:1713)
17q11 microdeletion syndrome (Orphanet:97685)
17q11.2 microduplication syndrome (Orphanet:139474)
17q12 microdeletion syndrome (Orphanet:261265)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
19p13.12 microdeletion syndrome (Orphanet:254346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q44 microdeletion syndrome (Orphanet:238769)
22q11.2 deletion syndrome (Orphanet:567)
22q11.2 microduplication syndrome (Orphanet:1727)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2q31.1 microdeletion syndrome (Orphanet:251014)
3C syndrome (Orphanet:7)
3M syndrome (Orphanet:2616)
48,XXXY syndrome (Orphanet:96263)
48,XXYY syndrome (Orphanet:10)
49,XXXXY syndrome (Orphanet:96264)
4q21 microdeletion syndrome (Orphanet:238750)
5p13 microduplication syndrome (Orphanet:329802)
AARSKOG-SCOTT SYNDROME (OMIM:305400)
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM (OMIM:104350)
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
AREDYLD syndrome (Orphanet:1133)
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION (OMIM:270500)
Aase-Smith syndrome (Orphanet:916)
Absence deformity of leg - cataract (Orphanet:2310)
Acro-osteolysis-keloid-like lesions-premature aging syndrome (Orphanet:363665)
Acro-oto-ocular syndrome (Orphanet:2980)
Acro-renal-mandibular syndrome (Orphanet:958)
Acro-renal-ocular syndrome (Orphanet:959)
Acrocapitofemoral dysplasia (Orphanet:63446)
Acrodysostosis with multiple hormone resistance (Orphanet:280651)
Acrofacial dysostosis, Palagonia type (Orphanet:1787)
Acrogeria (Orphanet:2500)
Acromesomelic dysplasia, Hunter-Thomson type (Orphanet:968)
Acromesomelic dysplasia, Maroteaux type (Orphanet:40)
Acroosteolysis, dominant type (Orphanet:955)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Aicardi syndrome (Orphanet:50)
Albright hereditary osteodystrophy (Orphanet:665)
Alexander disease (Orphanet:58)
Allan-Herndon-Dudley syndrome (Orphanet:59)
Alopecia - contractures - dwarfism - intellectual deficit (Orphanet:1005)
Alopecia-intellectual deficit syndrome (Orphanet:2850)
Alpha-N-acetylgalactosaminidase deficiency (Orphanet:3137)
Alpha-mannosidosis (Orphanet:61)
Alström syndrome (Orphanet:64)
Amniotic bands (Orphanet:1034)
Aneurysm - osteoarthritis syndrome (Orphanet:284984)
Angelman syndrome (Orphanet:72)
Angio-osteohypertrophic syndrome (Orphanet:2346)
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies (Orphanet:1101)
Arnold-Chiari malformation type I (Orphanet:268882)
Arterial tortuosity syndrome (Orphanet:3342)
Arthrogryposis due to muscular dystrophy (Orphanet:1155)
Arthrogryposis multiplex congenita (Orphanet:1037)
Arthrogryposis with oculomotor limitation and electroretinal anomalies (Orphanet:1154)
Arthrogryposis-like syndrome (Orphanet:1149)
Aspartylglucosaminuria (Orphanet:93)
Ataxia - oculomotor apraxia type 1 (Orphanet:1168)
Ataxia with vitamin E deficiency (Orphanet:96)
Ataxia-deafness-retardation syndrome (Orphanet:1188)
Atelosteogenesis type II (Orphanet:56304)
Atelosteogenesis type III (Orphanet:56305)
Atkin-Flaitz syndrome (Orphanet:1193)
Atypical Rett syndrome (Orphanet:3095)
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (Orphanet:99947)
Autosomal dominant Charcot-Marie-Tooth disease type 2C (Orphanet:99937)
Autosomal dominant Charcot-Marie-Tooth disease type 2D (Orphanet:99938)
Autosomal dominant Charcot-Marie-Tooth disease type 2E (Orphanet:99939)
Autosomal dominant Charcot-Marie-Tooth disease type 2L (Orphanet:99945)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant brachyolmia (Orphanet:93304)
Autosomal dominant chondrodysplasia punctata (Orphanet:79344)
Autosomal dominant congenital benign spinal muscular atrophy (Orphanet:1216)
Autosomal dominant dopa-responsive dystonia (Orphanet:98808)
Autosomal dominant hyper-IgE syndrome (Orphanet:2314)
Autosomal dominant limb-girdle muscular dystrophy type 1B (Orphanet:264)
Autosomal dominant multiple pterygium syndrome (Orphanet:65743)
Autosomal dominant popliteal pterygium syndrome (Orphanet:1300)
Autosomal dominant spastic paraplegia type 10 (Orphanet:100991)
Autosomal dominant spastic paraplegia type 3 (Orphanet:100984)
Autosomal dominant spondylocostal dysostosis (Orphanet:1797)
Autosomal recessive Emery-Dreifuss muscular dystrophy (Orphanet:98855)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive centronuclear myopathy (Orphanet:169186)
Autosomal recessive cerebelloparenchymal disorder type 3 (Orphanet:1170)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive cutis laxa type 2A (Orphanet:357058)
Autosomal recessive cutis laxa type 2B (Orphanet:357064)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (Orphanet:217055)
Autosomal recessive limb-girdle muscular dystrophy type 2C (Orphanet:353)
Autosomal recessive limb-girdle muscular dystrophy type 2D (Orphanet:62)
Autosomal recessive limb-girdle muscular dystrophy type 2E (Orphanet:119)
Autosomal recessive limb-girdle muscular dystrophy type 2I (Orphanet:34515)
Autosomal recessive limb-girdle muscular dystrophy type 2S (Orphanet:369840)
Autosomal recessive lower motor neuron disease with childhood onset (Orphanet:206580)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive spastic ataxia with leukoencephalopathy (Orphanet:314603)
Autosomal recessive spastic paraplegia type 18 (Orphanet:209951)
Autosomal recessive spastic paraplegia type 26 (Orphanet:101006)
Autosomal recessive spastic paraplegia type 28 (Orphanet:101008)
Autosomal recessive spastic paraplegia type 44 (Orphanet:320401)
Autosomal recessive spastic paraplegia type 46 (Orphanet:320391)
Autosomal recessive spastic paraplegia type 7 (Orphanet:99013)
Autosomal recessive spondylocostal dysostosis (Orphanet:2311)
Axial mesodermal dysplasia spectrum (Orphanet:1834)
BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY (OMIM:601357)
BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION (OMIM:613627)
BRESEK syndrome (Orphanet:85284)
BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
BRUCK SYNDROME 1 (OMIM:259450)
Baller-Gerold syndrome (Orphanet:1225)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Baraitser-Winter syndrome (Orphanet:2995)
Becker nevus syndrome (Orphanet:64755)
Beckwith-Wiedemann syndrome due to NSD1 mutation (Orphanet:238613)
Beta-ureidopropionase deficiency (Orphanet:65287)
Bird headed-dwarfism, Montreal type (Orphanet:2617)
Blepharophimosis - radioulnar synostosis (Orphanet:1256)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Brachydactyly type A1 (Orphanet:93388)
Brachyolmia (Orphanet:1293)
Brachyolmia type 1, Hobaek type (Orphanet:93301)
Brachyolmia type 1, Toledo type (Orphanet:93303)
Braddock syndrome (Orphanet:52047)
Brittle cornea syndrome (Orphanet:90354)
Bruck syndrome (Orphanet:2771)
C syndrome (Orphanet:1308)
CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA (OMIM:211930)
CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
CARPENTER SYNDROME 1 (OMIM:201000)
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURALHEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1 (OMIM:603513)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA,COMBINED (OMIM:302900)
CHARGE syndrome (Orphanet:138)
CHILD syndrome (Orphanet:139)
CHST3-related skeletal dysplasia (Orphanet:263463)
CK syndrome (Orphanet:251383)
CLARK-BARAITSER SYNDROME (OMIM:300602)
CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
CLOVE syndrome (Orphanet:140944)
CODAS syndrome (Orphanet:1458)
COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
COFFIN-SIRIS SYNDROME (OMIM:135900)
COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY (OMIM:616266)
COWDEN SYNDROME 5 (OMIM:615108)
COWDEN SYNDROME 6 (OMIM:615109)
CRANIOMETADIAPHYSEAL DYSPLASIA (OMIM:269300)
CUTIS LAXA, AUTOSOMAL DOMINANT 2 (OMIM:614434)
Caffey disease (Orphanet:1310)
Campomelic dysplasia (Orphanet:140)
Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia (Orphanet:1321)
Camptodactyly - joint contractures - facial skeletal defects (Orphanet:1323)
Camptodactyly - tall stature - scoliosis - hearing loss (Orphanet:85164)
Camurati-Engelmann disease (Orphanet:1328)
Cantrell pentalogy (Orphanet:1335)
Cap myopathy (Orphanet:171881)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carpenter syndrome (Orphanet:65759)
Cartilage-hair hypoplasia (Orphanet:175)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Cataract-congenital heart disease-neural tube defect syndrome (Orphanet:314993)
Catel-Manzke syndrome (Orphanet:1388)
Caudal regression sequence (Orphanet:3027)
Cenani-Lenz syndrome (Orphanet:3258)
Centronuclear myopathy (Orphanet:595)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Cerebro-facio-articular syndrome (Orphanet:314679)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Charcot-Marie-Tooth disease (Orphanet:166)
Charcot-Marie-Tooth disease type 4B1 (Orphanet:99955)
Charcot-Marie-Tooth disease type 4B3 (Orphanet:363981)
Charcot-Marie-Tooth disease type 4C (Orphanet:99949)
Charcot-Marie-Tooth disease type 4F (Orphanet:99952)
Charcot-Marie-Tooth disease type 4G (Orphanet:99953)
Charcot-Marie-Tooth disease type 4H (Orphanet:99954)
Chronic recurrent multifocal osteomyelitis (Orphanet:324964)
Classic multiminicore myopathy (Orphanet:324604)
Classical homocystinuria (Orphanet:394)
Cleft palate - short stature - vertebral anomalies (Orphanet:2015)
Cleidocranial dysplasia (Orphanet:1452)
Coats plus syndrome (Orphanet:313838)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Cohen syndrome (Orphanet:193)
Cole-Carpenter syndrome (Orphanet:2050)
Congenital amegakaryocytic thrombocytopenia (Orphanet:3319)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital contractural arachnodactyly (Orphanet:115)
Congenital fiber-type disproportion myopathy (Orphanet:2020)
Congenital multicore myopathy with external ophthalmoplegia (Orphanet:98905)
Congenital muscular dystrophy with cerebellar involvement (Orphanet:370959)
Congenital muscular dystrophy with integrin alpha-7 deficiency (Orphanet:34520)
Congenital muscular dystrophy with intellectual disability and severe epilepsy (Orphanet:329178)
Congenital muscular dystrophy, Ullrich type (Orphanet:75840)
Congenital myopathy with excess of thin filaments (Orphanet:98904)
Connective tissue disorder due to lysyl hydroxylase-3 deficiency (Orphanet:300284)
Constriction rings syndrome (Orphanet:295000)
Cooper-Jabs syndrome (Orphanet:1488)
Corneal-cerebellar syndrome (Orphanet:3177)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Costello syndrome (Orphanet:3071)
Cowden syndrome (Orphanet:201)
Craniofrontonasal dysplasia (Orphanet:1520)
Craniolenticulosutural dysplasia (Orphanet:50814)
Craniometadiaphyseal dysplasia, wormian bone type (Orphanet:85184)
Cryptorchidism - arachnodactyly - intellectual deficit (Orphanet:1548)
Cutis laxa (Orphanet:209)
Cutis marmorata telangiectatica congenita (Orphanet:1556)
Cyprus facial-neuromusculoskeletal syndrome (Orphanet:2674)
Czech dysplasia, metatarsal type (Orphanet:137678)
DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
DIGEORGE SYNDROME (OMIM:188400)
DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED (OMIM:304950)
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
De Barsy syndrome (Orphanet:2962)
Dermato-cardio-skeletal syndrome, Borrone type (Orphanet:1266)
Dermatoosteolysis, Kirghizian type (Orphanet:1657)
Desbuquois syndrome (Orphanet:1425)
Desmin-related myopathy with Mallory body-like inclusions (Orphanet:84132)
Developmental malformations - deafness - dystonia (Orphanet:79107)
Diabetic embryopathy (Orphanet:1926)
Diastematomyelia (Orphanet:1671)
Diastrophic dwarfism (Orphanet:628)
Digitotalar dysmorphism (Orphanet:1146)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal monosomy 6p (Orphanet:96125)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
Duane anomaly - myopathy - scoliosis (Orphanet:50817)
Dubowitz syndrome (Orphanet:235)
Duchenne and Becker muscular dystrophy (Orphanet:262)
Duchenne muscular dystrophy (Orphanet:98896)
Dyggve-Melchior-Clausen disease (Orphanet:239)
Dyskeratosis congenita (Orphanet:1775)
Dysostosis, Stanescu type (Orphanet:1798)
Dysspondyloenchondromatosis (Orphanet:85198)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 (OMIM:300672)
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE (OMIM:615923)
Early-onset generalized limb-onset dystonia (Orphanet:256)
Early-onset myopathy with fatal cardiomyopathy (Orphanet:289377)
Ectodermal dysplasia - sensorineural deafness (Orphanet:1883)
Ehlers-Danlos syndrome type 1 (Orphanet:90309)
Ehlers-Danlos syndrome type 7A (Orphanet:99875)
Ehlers-Danlos syndrome type 7B (Orphanet:99876)
Ehlers-Danlos syndrome with periventricular heterotopia (Orphanet:82004)
Ehlers-Danlos syndrome, arthrochalasic type (Orphanet:1899)
Ehlers-Danlos syndrome, classic type (Orphanet:287)
Ehlers-Danlos syndrome, dermatosparaxis type (Orphanet:1901)
Ehlers-Danlos syndrome, hypermobility type (Orphanet:285)
Ehlers-Danlos syndrome, kyphoscoliotic type (Orphanet:1900)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Emanuel syndrome (Orphanet:96170)
Emery-Dreifuss muscular dystrophy (Orphanet:261)
Eng-Strom syndrome (Orphanet:1937)
Epilepsy - microcephaly - skeletal dysplasia (Orphanet:1948)
Epiphyseal dysplasia - hearing loss - dysmorphism (Orphanet:1825)
FACES syndrome (Orphanet:1969)
FG SYNDROME 4 (OMIM:300422)
FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA (OMIM:229310)
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation (Orphanet:1970)
Faciocardiorenal syndrome (Orphanet:1973)
Familial dysautonomia (Orphanet:1764)
Familial multiple nevi flammei (Orphanet:624)
Familial osteodysplasia, Anderson type (Orphanet:2769)
Fanconi anemia (Orphanet:84)
Femoral-facial syndrome (Orphanet:1988)
Fetal akinesia deformation sequence (Orphanet:994)
Fetal trimethadione syndrome (Orphanet:1913)
Fibrodysplasia ossificans progressiva (Orphanet:337)
Fine-Lubinsky syndrome (Orphanet:1272)
Flat face - microstomia - ear anomaly (Orphanet:1968)
Flynn-Aird syndrome (Orphanet:2047)
Focal dermal hypoplasia (Orphanet:2092)
Fountain syndrome (Orphanet:3219)
Fragile X syndrome (Orphanet:908)
Freeman-Sheldon syndrome (Orphanet:2053)
Fried syndrome (Orphanet:85335)
Friedreich ataxia 1 (OMIM:229300)
Friedreich ataxia 2 (OMIM:601992)
Frontometaphyseal dysplasia (Orphanet:1826)
Fryns-Smeets-Thiry syndrome (Orphanet:2058)
Fucosidosis (Orphanet:349)
GLUTEAL MUSCLES, ABSENCE OF (OMIM:231970)
GM1 gangliosidosis (Orphanet:354)
GM1 gangliosidosis type 1 (Orphanet:79255)
GM1 gangliosidosis type 3 (Orphanet:79257)
Gaucher disease type 1 (Orphanet:77259)
Gaucher disease type 2 (Orphanet:77260)
Gaucher disease type 3 (Orphanet:77261)
Generalized congenital lipodystrophy with myopathy (Orphanet:228429)
Genito-palato-cardiac syndrome (Orphanet:2075)
Geroderma osteodysplastica (Orphanet:2078)
Giant axonal neuropathy (Orphanet:643)
Glaucoma - ectopia - microspherophakia - stiff joints - short stature (Orphanet:2084)
Glycogen storage disease due to acid maltase deficiency, late-onset (Orphanet:420429)
Gnathodiaphyseal dysplasia (Orphanet:53697)
Goldblatt syndrome (Orphanet:166272)
Goldenhar syndrome (Orphanet:374)
Gordon syndrome (Orphanet:376)
Gorlin syndrome (Orphanet:377)
HOLOPROSENCEPHALY 2 (OMIM:157170)
HUNTER-MACDONALD SYNDROME (OMIM:611962)
Hall-Riggs syndrome (Orphanet:2107)
Hallermann-Streiff syndrome (Orphanet:2108)
Harrod syndrome (Orphanet:2115)
Hemihypertrophy (Orphanet:2128)
Hennekam syndrome (Orphanet:2136)
Hennekam-Beemer syndrome (Orphanet:2135)
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia (Orphanet:79091)
Hereditary motor and sensory neuropathy type 6 (Orphanet:90120)
Hereditary myoclonus - progressive distal muscular atrophy (Orphanet:2590)
Hereditary neuropathy with liability to pressure palsies (Orphanet:640)
Hip dysplasia, Beukes type (Orphanet:2114)
Holoprosencephaly (Orphanet:2162)
Holt-Oram syndrome (Orphanet:392)
Horizontal gaze palsy with progressive scoliosis (Orphanet:2744)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hyaline body myopathy (Orphanet:53698)
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly (Orphanet:2180)
Hydrocephaly - tall stature - joint laxity (Orphanet:2181)
Hypocalcemic vitamin D-resistant rickets (Orphanet:93160)
Hypochondroplasia (Orphanet:429)
Hypomyelination - congenital cataract (Orphanet:85163)
Hypophosphatemic rickets (Orphanet:437)
Hypotonia-speech impairment-severe cognitive delay syndrome (Orphanet:371364)
IMMUNODEFICIENCY 23 (OMIM:615816)
IVIC syndrome (Orphanet:2307)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Ichthyosis-cheek-eyebrow syndrome (Orphanet:2267)
Incontinentia pigmenti (Orphanet:464)
Infantile-onset ascending hereditary spastic paralysis (Orphanet:293168)
Inherited congenital spastic tetraplegia (Orphanet:210141)
Intellectual deficit - athetosis - microphthalmia (Orphanet:1236)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Intellectual deficit, Wolff type (Orphanet:3080)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration (Orphanet:85317)
Intellectual deficit, X-linked - psychosis - macroorchidism (Orphanet:3077)
Intellectual deficit, X-linked - seizures - psoriasis (Orphanet:3052)
Intellectual deficit, X-linked, Abidi type (Orphanet:85273)
Intellectual deficit, X-linked, Siderius type (Orphanet:85287)
Intellectual deficit, X-linked, Vitale type (Orphanet:85289)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome (Orphanet:369837)
Isolated Klippel-Feil syndrome (Orphanet:2345)
Isolated glycerol kinase deficiency (Orphanet:408)
Isolated spina bifida (Orphanet:823)
Ito hypomelanosis (Orphanet:435)
Jacobsen syndrome (Orphanet:2308)
Joubert syndrome (Orphanet:475)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Joubert syndrome with renal defect (Orphanet:220497)
Juberg-Hayward syndrome (Orphanet:2319)
KABUKI SYNDROME 1 (OMIM:147920)
KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
Kabuki syndrome (Orphanet:2322)
Kapur-Toriello syndrome (Orphanet:2328)
Kleefstra syndrome (Orphanet:261494)
Kniest dysplasia (Orphanet:485)
Koolen-De Vries syndrome (Orphanet:96169)
LEBER OPTIC ATROPHY AND DYSTONIA (OMIM:500001)
LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Laing distal myopathy (Orphanet:59135)
Langer-Giedion syndrome (Orphanet:502)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Lateral meningocele syndrome (Orphanet:2789)
Leigh syndrome (Orphanet:506)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Leri pleonosteosis (Orphanet:2900)
Lethal chondrodysplasia, Moerman type (Orphanet:1420)
Lethal restrictive dermopathy (Orphanet:1662)
Lhermitte-Duclos disease (Orphanet:65285)
Limb body wall complex (Orphanet:2369)
Linear verrucous nevus syndrome (Orphanet:2611)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
Léri-Weill dyschondrosteosis (Orphanet:240)
MACS syndrome (Orphanet:217335)
MARFANOID HABITUS WITH SITUS INVERSUS (OMIM:609008)
MARFANOID HYPERMOBILITY SYNDROME (OMIM:154750)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE (OMIM:300861)
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM (OMIM:616033)
MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
MUCOLIPIDOSIS III GAMMA (OMIM:252605)
MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE (OMIM:609456)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 (OMIM:615249)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 (OMIM:613156)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET (OMIM:300718)
Macrocephaly - spastic paraplegia - dysmorphism (Orphanet:2429)
Madelung deformity (Orphanet:35688)
Maffucci syndrome (Orphanet:163634)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Mandibular hypoplasia-deafness-progeroid syndrome (Orphanet:363649)
Marden-Walker syndrome (Orphanet:2461)
Marfan syndrome (Orphanet:558)
Marfan syndrome type 1 (Orphanet:284963)
Marinesco-Sjögren syndrome (Orphanet:559)
Marshall-Smith syndrome (Orphanet:561)
Maxillo-nasal dysplasia (Orphanet:1248)
McDonough syndrome (Orphanet:2471)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Mesomelic dwarfism, Nievergelt type (Orphanet:2633)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal chondrodysplasia, Spahr type (Orphanet:2501)
Metaphyseal dysostosis - intellectual deficit - conductive deafness (Orphanet:2502)
Metatropic dysplasia (Orphanet:2635)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Micro syndrome (Orphanet:2510)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic primordial dwarfism, Alazami type (Orphanet:319671)
Microcephaly - brachydactyly - kyphoscoliosis (Orphanet:3433)
Microphthalmia, Lenz type (Orphanet:568)
Mikati-Najjar-Sahli syndrome (Orphanet:2558)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial myopathy and sideroblastic anemia (Orphanet:2598)
Mohr-Tranebjaerg syndrome (Orphanet:52368)
Monosomy 18q (Orphanet:1600)
Monosomy 5p (Orphanet:281)
Monosomy 9p (Orphanet:261112)
Mosaic trisomy 8 (Orphanet:96061)
Mosaic trisomy 9 (Orphanet:99776)
Mowat-Wilson syndrome (Orphanet:2152)
Mucolipidosis type 3 (Orphanet:577)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 3 (Orphanet:581)
Mucopolysaccharidosis type 4 (Orphanet:582)
Mucopolysaccharidosis type 4A (Orphanet:309297)
Mucopolysaccharidosis type 4B (Orphanet:309310)
Mucopolysaccharidosis type 7 (Orphanet:584)
Mulibrey nanism (Orphanet:2576)
Multiminicore myopathy (Orphanet:598)
Multiple endocrine neoplasia type 2 (Orphanet:653)
Multiple endocrine neoplasia type 2B (Orphanet:247709)
Multiple epiphyseal dysplasia type 4 (Orphanet:93307)
Multiple epiphyseal dysplasia, Lowry type (Orphanet:166016)
Multiple non-ossifying fibromatosis (Orphanet:2029)
Multiple osteochondromas (Orphanet:321)
Muscular dystrophy, Selcen type (Orphanet:199340)
NEMALINE MYOPATHY 1 (OMIM:609284)
NEMALINE MYOPATHY 2 (OMIM:256030)
NEMALINE MYOPATHY 9 (OMIM:615731)
NEU-LAXOVA SYNDROME 2 (OMIM:616038)
NOONAN SYNDROME 4 (OMIM:610733)
Nager syndrome (Orphanet:245)
Nail-patella syndrome (Orphanet:2614)
Nemaline myopathy (Orphanet:607)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (Orphanet:457185)
Nestor-Guillermo progeria syndrome (Orphanet:280576)
Neu-Laxova syndrome (Orphanet:2671)
Neurofibromatosis type 1 (Orphanet:636)
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion (Orphanet:363700)
Neuronal intranuclear inclusion disease (Orphanet:2289)
Nevus comedonicus syndrome (Orphanet:64754)
Night blindness - skeletal anomalies - dysmorphism (Orphanet:1390)
Non-distal trisomy 10q (Orphanet:1695)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Noonan syndrome (Orphanet:648)
Noonan syndrome with multiple lentigines (Orphanet:500)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
Norrie disease (Orphanet:649)
OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
OSTEOGENESIS IMPERFECTA, TYPE IX (OMIM:259440)
OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
OSTEOGENESIS IMPERFECTA, TYPE VIII (OMIM:610915)
OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
OSTEOGENESIS IMPERFECTA, TYPE XI (OMIM:610968)
OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
OSTEOGENESIS IMPERFECTA, TYPE XV (OMIM:615220)
Occipital horn syndrome (Orphanet:198)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Oculo-reno-cerebellar syndrome (Orphanet:2715)
Oculocerebrorenal syndrome (Orphanet:534)
Oculofaciocardiodental syndrome (Orphanet:2712)
Okihiro syndrome (Orphanet:93293)
Oliver syndrome (Orphanet:2920)
Omphalocele syndrome, Shprintzen-Goldberg type (Orphanet:3164)
Orofaciodigital syndrome type 2 (Orphanet:2751)
Orofaciodigital syndrome type 5 (Orphanet:2919)
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa (Orphanet:2653)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteogenesis imperfecta (Orphanet:666)
Osteogenesis imperfecta type 3 (Orphanet:216812)
Osteogenesis imperfecta type 4 (Orphanet:216820)
Osteoglophonic dwarfism (Orphanet:2645)
Osteomesopyknosis (Orphanet:2777)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 1 (Orphanet:90650)
Otopalatodigital syndrome type 2 (Orphanet:90652)
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY (OMIM:602342)
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY,AND PULMONARY FIBROSIS (OMIM:615704)
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
POSTERIOR COLUMN ATAXIA (OMIM:176250)
PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED (OMIM:177850)
Pachydermoperiostosis (Orphanet:2796)
Parastremmatic dwarfism (Orphanet:2646)
Pelizaeus-Merzbacher disease (Orphanet:702)
Pericardial and diaphragmatic defect (Orphanet:2847)
Perrault Syndrome (Orphanet:2855)
Perrault Syndrome 1 (OMIM:233400)
Peters-plus syndrome (Orphanet:709)
Pilotto syndrome (Orphanet:2894)
Pitt-Hopkins-like syndrome 2 (OMIM:614325)
Poland syndrome (Orphanet:2911)
Polyglucosan body myopathy type 1 (ORPHA:397937)
Pontine tegmental cap dysplasia (Orphanet:269229)
Postaxial polydactyly - dental and vertebral anomalies (Orphanet:2916)
Posterior column ataxia - retinitis pigmentosa (Orphanet:88628)
Prader-Willi syndrome (Orphanet:739)
Prata-Liberal-Goncalves syndrome (Orphanet:2956)
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome (Orphanet:276432)
Primary hypergonadotropic hypogonadism - partial alopecia (Orphanet:2232)
Progressive myoclonic epilepsy type 6 (Orphanet:280620)
Progressive pseudorheumatoid arthropathy of childhood (Orphanet:1159)
Proteus syndrome (Orphanet:744)
Proteus-like syndrome (Orphanet:2969)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Prune belly syndrome (Orphanet:2970)
Pseudoachondroplasia (Orphanet:750)
Pseudodiastrophic dysplasia (Orphanet:85174)
Pseudoprogeria syndrome (Orphanet:2985)
Pseudoxanthoma elasticum (Orphanet:758)
Pycnodysostosis (Orphanet:763)
Pyle disease (Orphanet:3005)
RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION (OMIM:268050)
RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA (OMIM:610319)
Ramon syndrome (Orphanet:3019)
Recombinant 8 syndrome (Orphanet:96167)
Renpenning syndrome (Orphanet:3242)
Rett syndrome (Orphanet:778)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 2 (Orphanet:309796)
Riboflavin transporter deficiency (Orphanet:97229)
Richieri Costa-da Silva syndrome (Orphanet:3101)
Rigid spine syndrome (Orphanet:97244)
Rothmund-Thomson syndrome (Orphanet:2909)
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (Orphanet:353281)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
Ruvalcaba syndrome (Orphanet:3121)
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 1 (OMIM:181800)
SECKEL SYNDROME 1 (OMIM:210600)
SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
SOTOS SYNDROME 2 (OMIM:614753)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 (OMIM:606002)
SPONASTRIME dysplasia (Orphanet:93357)
SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGERTYPE (OMIM:609223)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATECALCIFICATIONS, AND DEAFNESS (OMIM:609616)
STEEL SYNDROME (OMIM:615155)
STEVENSON-CAREY SYNDROME (OMIM:611961)
STICKLER SYNDROME, TYPE I (OMIM:108300)
Saethre-Chotzen syndrome (Orphanet:794)
Say-Barber-Miller syndrome (Orphanet:3132)
Scheie syndrome (Orphanet:93474)
Schinzel-Giedion syndrome (Orphanet:798)
Schwartz-Jampel syndrome (Orphanet:800)
Seckel syndrome (Orphanet:808)
Senior-Loken syndrome 8 (OMIM:616307)
Sheldon-Hall syndrome (Orphanet:1147)
Short chain acyl-CoA dehydrogenase deficiency (Orphanet:26792)
Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM:613091)
Shoulder and thorax deformity - congenital heart disease (Orphanet:1940)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Shwachman-Diamond syndrome (Orphanet:811)
Sialidosis type 1 (Orphanet:812)
Sialuria (Orphanet:3166)
Sillence syndrome (Orphanet:3168)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Sjögren-Larsson syndrome (Orphanet:816)
Skeletal dysplasia - epilepsy - short stature (Orphanet:1858)
Skeletal dysplasia - intellectual deficit (Orphanet:1436)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Smith-Magenis syndrome (Orphanet:819)
Smith-McCort dysplasia (Orphanet:178355)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
Sotos syndrome (Orphanet:821)
Spastic paraplegia-optic atrophy-neuropathy syndrome (Orphanet:320406)
Spinocerebellar ataxia - dysmorphism (Orphanet:1185)
Spinocerebellar ataxia type 25 (Orphanet:101111)
Spinocerebellar ataxia with axonal neuropathy type 2 (Orphanet:64753)
Split hand - split foot - deafness (Orphanet:71271)
Spondylocamptodactyly syndrome (Orphanet:3180)
Spondylocarpotarsal synostosis (Orphanet:3275)
Spondylocostal dysostosis - anal and genitourinary malformations (Orphanet:94095)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Spondyloepimetaphyseal dysplasia congenita, Strudwick type (Orphanet:93346)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Orphanet:93360)
Spondyloepiphyseal dysplasia congenita (Orphanet:94068)
Spondyloepiphyseal dysplasia tarda (Orphanet:93284)
Spondylometaphyseal dysplasia - cone-rod dystrophy (Orphanet:85167)
Spondylometaphyseal dysplasia, 'corner fracture' type (Orphanet:93315)
Spondylometaphyseal dysplasia, Kozlowski type (Orphanet:93314)
Spondylometaphyseal dysplasia, Schmidt type (Orphanet:93316)
Sprengel deformity (Orphanet:3181)
Steinert myotonic dystrophy (Orphanet:273)
Stickler syndrome (Orphanet:828)
Stoll-Alembik-Finck syndrome (Orphanet:3200)
Stüve-Wiedemann syndrome (Orphanet:3206)
Subaortic stenosis - short stature (Orphanet:3191)
Symbrachydactyly of hands and feet (Orphanet:1570)
Symptomatic form of Coffin-Lowry syndrome in female carriers (Orphanet:276630)
Synaptic congenital myasthenic syndromes (Orphanet:98915)
Synostosis - microcephaly - scoliosis (Orphanet:3268)
Syringomyelia (Orphanet:3280)
TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
TEMPLE SYNDROME (OMIM:616222)
TENORIO SYNDROME (OMIM:616260)
THORACOLARYNGOPELVIC DYSPLASIA (OMIM:187760)
TMCO1 defect syndrome (Orphanet:228407)
TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Terminal transverse defects of arm (Orphanet:93937)
Tetrasomy 18p (Orphanet:3307)
Thoracolaryngopelvic dysplasia (Orphanet:3317)
Thrombocytopenia - absent radius (Orphanet:3320)
Torticollis - keloids - cryptorchidism - renal dysplasia (Orphanet:3341)
Tricho-oculo-dermo-vertebral syndrome (Orphanet:3354)
Trichodermodysplasia - dental alterations (Orphanet:3353)
Trichorhinophalangeal syndrome type 1 and 3 (Orphanet:77258)
Trisomy 13 (Orphanet:3378)
Trisomy 17p (Orphanet:261290)
Trisomy 4p (Orphanet:1738)
Trisomy 5p (Orphanet:1742)
Trisomy 9p (Orphanet:236)
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
VACTERL/VATER association (Orphanet:887)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
VERHEIJ SYNDROME (OMIM:615583)
WAGR syndrome (Orphanet:893)
WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Waardenburg syndrome type 1 (Orphanet:894)
Weaver syndrome (Orphanet:3447)
Weill-Marchesani syndrome (Orphanet:3449)
Weismann-Netter syndrome (Orphanet:3344)
Williams syndrome (Orphanet:904)
Wilson-Turner syndrome (Orphanet:3459)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wrinkly skin syndrome (Orphanet:2834)
X-linked Charcot-Marie-Tooth disease type 1 (Orphanet:101075)
X-linked Charcot-Marie-Tooth disease type 2 (Orphanet:101076)
X-linked Charcot-Marie-Tooth disease type 3 (Orphanet:101077)
X-linked Charcot-Marie-Tooth disease type 4 (Orphanet:101078)
X-linked Charcot-Marie-Tooth disease type 5 (Orphanet:99014)
X-linked centronuclear myopathy (Orphanet:596)
X-linked congenital generalized hypertrichosis (Orphanet:79495)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
X-linked intellectual deficit with marfanoid habitus (Orphanet:776)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked sideroblastic anemia - ataxia (Orphanet:2802)
Xeroderma pigmentosum complementation group F (Orphanet:276264)
Zimmermann-Laband syndrome (Orphanet:3473)
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
[DEL] SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)