Frontal bossing

Symptom Information:

Symptom ID: HPO:0002007
Synonyms:
Frontal bossing (disorder) [Orphanet:2640]
Frontal bossing [Orphanet:2640]
Frontal bossing [OMIM:Frontal bossing]
Frontal bossing/prominent forehead [Orphanet:2640]
Frontal bossing (2p21del) [OMIM:Frontal bossing (2p21del)]
Frontal bossing (3 patients) [OMIM:Frontal bossing (3 patients)]
Frontal bossing (78%) [OMIM:Frontal bossing (78%)]
Frontal bossing (79%) [OMIM:Frontal bossing (79%)]
Frontal bossing (females) [OMIM:Frontal bossing (females)]
Frontal bossing (in 1/4 patients) [OMIM:Frontal bossing (in 1/4 patients)]
Frontal bossing (in some patients) [OMIM:Frontal bossing (in some patients)]
Frontal bossing (rare) [OMIM:Frontal bossing (rare)]
Quality:
Cross references:
Orphanet:2640 "Frontal bossing/prominent forehead" [Orphanet:2640]
OMIM: "Frontal bossing" [OMIM:Frontal bossing]
OMIM: "Frontal bossing (2p21del)" [OMIM:Frontal bossing (2p21del)]
OMIM: "Frontal bossing (3 patients)" [OMIM:Frontal bossing (3 patients)]
OMIM: "Frontal bossing (78%)" [OMIM:Frontal bossing (78%)]
OMIM: "Frontal bossing (79%)" [OMIM:Frontal bossing (79%)]
OMIM: "Frontal bossing (females)" [OMIM:Frontal bossing (females)]
OMIM: "Frontal bossing (in 1/4 patients)" [OMIM:Frontal bossing (in 1/4 patients)]
OMIM: "Frontal bossing (in some patients)" [OMIM:Frontal bossing (in some patients)]
OMIM: "Frontal bossing (rare)" [OMIM:Frontal bossing (rare)]
UMLS:C0221354 "Frontal bossing" [Orphanet:2640]
Is a (Direct Parents):
HPO         Abnormality of the forehead
Orphanet Abnormality of the skull
HPO         Abnormal shape of the frontal region
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 skull(HPO:0000929)
                   Abnormality of the calvaria(HPO:0002683)
                      Abnormality of calvarial morphology(HPO:0002648)
                         Abnormal shape of the frontal region(HPO:0011218)
                            Frontal bossing(HPO:0002007)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the skull(HPO:0000929)
                Abnormality of the calvaria(HPO:0002683)
                   Abnormality of calvarial morphology(HPO:0002648)
                      Abnormal shape of the frontal region(HPO:0011218)
                         Frontal bossing(HPO:0002007)
             Abnormality of the face(HPO:0000271)
                Abnormality of the forehead(HPO:0000290)
                   Frontal bossing(HPO:0002007)
MedDRA:
Database Frequency: 366 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
12q14 microdeletion syndrome (Orphanet:94063)
15q13.3 microdeletion syndrome (Orphanet:199318)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
16q24.3 microdeletion syndrome (Orphanet:261250)
17p13.3 microduplication syndrome (Orphanet:217385)
17q12 microdeletion syndrome (Orphanet:261265)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q21.1 microduplication syndrome (Orphanet:250994)
1q41q42 microdeletion syndrome (Orphanet:250999)
1q44 microdeletion syndrome (Orphanet:238769)
2p21 microdeletion syndrome (Orphanet:163693)
2q23.1 microdeletion syndrome (Orphanet:228402)
2q32q33 microdeletion syndrome (Orphanet:251019)
2q37 microdeletion syndrome (Orphanet:1001)
3C syndrome (Orphanet:7)
3M syndrome (Orphanet:2616)
4q21 microdeletion syndrome (Orphanet:238750)
5p13 microduplication syndrome (Orphanet:329802)
8q22.1 microdeletion syndrome (Orphanet:178303)
AICA-ribosiduria (Orphanet:250977)
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
ASYMMETRIC SHORT STATURE SYNDROME (OMIM:108450)
Achondrogenesis (Orphanet:932)
Achondrogenesis type 1A (Orphanet:93299)
Achondrogenesis type 1B (Orphanet:93298)
Achondrogenesis type 2 (Orphanet:93296)
Achondroplasia (Orphanet:15)
Acrocallosal syndrome (Orphanet:36)
Acromegaly (Orphanet:963)
Acromesomelic dysplasia, Maroteaux type (Orphanet:40)
Acute infantile liver failure-multisystemic involvement syndrome (Orphanet:370088)
Alagille syndrome (Orphanet:52)
Albers-Schönberg osteopetrosis (Orphanet:53)
Alexander disease (Orphanet:58)
Alpha-mannosidosis (Orphanet:61)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Aniridia - renal agenesis - psychomotor retardation (Orphanet:1064)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Antley-Bixler syndrome (Orphanet:83)
Apert syndrome (Orphanet:87)
Arachnodactyly - abnormal ossification - intellectual deficit (Orphanet:1129)
Atelosteogenesis type I (Orphanet:1190)
Atelosteogenesis type III (Orphanet:56305)
Atkin-Flaitz syndrome (Orphanet:1193)
Atypical hypotonia - cystinuria syndrome (Orphanet:238523)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant chondrodysplasia punctata (Orphanet:79344)
Autosomal dominant hyper-IgE syndrome (Orphanet:2314)
Autosomal dominant hypohidrotic ectodermal dysplasia (Orphanet:1810)
Autosomal dominant nonsyndromic intellectual deficit (Orphanet:178469)
Autosomal dominant omodysplasia (Orphanet:93328)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive cutis laxa type 2A (Orphanet:357058)
Autosomal recessive cutis laxa type 2B (Orphanet:357064)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
Autosomal recessive hypohidrotic ectodermal dysplasia (Orphanet:248)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
Autosomal recessive omodysplasia (Orphanet:93329)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
Axenfeld-Rieger syndrome (Orphanet:782)
Axial spondylometaphyseal dysplasia (Orphanet:168549)
Baller-Gerold syndrome (Orphanet:1225)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Bartter syndrome (Orphanet:112)
Bifunctional enzyme deficiency (Orphanet:300)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
Brachydactyly - preaxial hallux varus (Orphanet:1278)
Brachydactyly type E (Orphanet:93387)
Brachymorphism - onychodysplasia - dysphalangism (Orphanet:1292)
CARPENTER SYNDROME 2 (OMIM:614976)
CHROMOSOME 16q22 DELETION SYNDROME (OMIM:614541)
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME (OMIM:613603)
CINCA syndrome (Orphanet:1451)
CLARK-BARAITSER SYNDROME (OMIM:300602)
CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
COLE-CARPENTER SYNDROME 2 (OMIM:616294)
CORPUS CALLOSUM, AGENESIS OF (OMIM:217990)
CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS (OMIM:608279)
CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Camurati-Engelmann disease (Orphanet:1328)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cartilage-hair hypoplasia (Orphanet:175)
Cenani-Lenz syndrome (Orphanet:3258)
Cerebro-oculo-nasal syndrome (Orphanet:66625)
Childhood-onset hypophosphatasia (Orphanet:247667)
Cleidocranial dysplasia (Orphanet:1452)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Coffin-Lowry syndrome (Orphanet:192)
Cole-Carpenter syndrome (Orphanet:2050)
Congenital bile acid synthesis defect type 4 (Orphanet:79095)
Congenital contractural arachnodactyly (Orphanet:115)
Cooper-Jabs syndrome (Orphanet:1488)
Corneal anesthesia - deafness - intellectual deficit (Orphanet:1051)
Cortical blindness - intellectual deficit - polydactyly (Orphanet:1389)
Craniodiaphyseal dysplasia (Orphanet:1513)
Cranioectodermal dysplasia (Orphanet:1515)
Cranioectodermal dysplasia 1 (OMIM:218330)
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)
Craniosynostosis - Dandy-Walker malformation - hydrocephalus (Orphanet:1538)
Craniosynostosis - anal anomalies - porokeratosis (Orphanet:85199)
Craniosynostosis - dysmorphism - brachydactyly (Orphanet:1535)
Craniosynostosis, Boston type (Orphanet:1541)
Craniotelencephalic dysplasia (Orphanet:1528)
Crouzon disease (Orphanet:207)
Crouzon syndrome - acanthosis nigricans (Orphanet:93262)
Cutis laxa (Orphanet:209)
Cystic fibrosis - gastritis - megaloblastic anemia (Orphanet:2575)
Cystinosis (Orphanet:213)
D-2-hydroxyglutaric aciduria (Orphanet:79315)
Dandy-Walker malformation - postaxial polydactyly (Orphanet:1566)
De Barsy syndrome (Orphanet:2962)
Deafness - epiphyseal dysplasia - short stature (Orphanet:3218)
Deafness - genital anomalies - metacarpal and metatarsal synostosis (Orphanet:3224)
Deafness-craniofacial syndrome (Orphanet:3241)
Delayed membranous cranial ossification (Orphanet:3034)
Desmosterolosis (Orphanet:35107)
Diabetic embryopathy (Orphanet:1926)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 6p (Orphanet:96125)
Distal trisomy 6p (Orphanet:1745)
Dysmorphism - pectus carinatum - joint laxity (Orphanet:2104)
Dysosteosclerosis (Orphanet:1782)
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMALRECESSIVE (OMIM:224900)
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMALDOMINANT (OMIM:612132)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 (OMIM:615539)
Ear-patella-short stature syndrome (Orphanet:2554)
Early-onset parkinsonism - intellectual deficit (Orphanet:2379)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Ectodermal dysplasia syndrome (Orphanet:79373)
Edinburgh malformation syndrome (Orphanet:1895)
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria (Orphanet:1035)
Encephalopathy due to sulfite oxidase deficiency (Orphanet:833)
FIBROCHONDROGENESIS 1 (OMIM:228520)
FORSYTHE-WAKELING SYNDROME (OMIM:613606)
Familial intestinal malrotation - facial anomalies (Orphanet:2454)
Familial lambdoid synostosis (Orphanet:3267)
Fanconi anemia (Orphanet:84)
Fetal trimethadione syndrome (Orphanet:1913)
Fibrochondrogenesis (Orphanet:2021)
Fibulo-ulnar hypoplasia - renal anomalies (Orphanet:2256)
Filippi syndrome (Orphanet:3255)
Fragile X syndrome (Orphanet:908)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
Fucosidosis (Orphanet:349)
Fumaric aciduria (Orphanet:24)
GAPO syndrome (Orphanet:2067)
GM1 gangliosidosis (Orphanet:354)
GRANDDAD SYNDROME (OMIM:138920)
Glutaryl-CoA dehydrogenase deficiency (Orphanet:25)
Goldblatt syndrome (Orphanet:166272)
Gorlin syndrome (Orphanet:377)
Grant syndrome (Orphanet:2097)
Greig cephalopolysyndactyly syndrome (Orphanet:380)
HOLOPROSENCEPHALY 7 (OMIM:610828)
HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES (OMIM:236410)
HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM (OMIM:612089)
Hallermann-Streiff syndrome (Orphanet:2108)
Hereditary hypophosphatemic rickets with hypercalciuria (Orphanet:157215)
Holoprosencephaly (Orphanet:2162)
Hurler syndrome (Orphanet:93473)
Hydrocephalus - blue sclerae - nephropathy (Orphanet:2186)
Hydrocephaly - tall stature - joint laxity (Orphanet:2181)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hypertelorism, Teebi type (Orphanet:1519)
Hypocalcemic vitamin D-dependent rickets (Orphanet:289157)
Hypocalcemic vitamin D-resistant rickets (Orphanet:93160)
Hypochondroplasia (Orphanet:429)
Hypohidrotic ectodermal dysplasia (Orphanet:238468)
Hypospadias - hypertelorism - coloboma and deafness (Orphanet:157788)
Hypotonia - cystinuria syndrome (Orphanet:163690)
IMAGe syndrome (Orphanet:85173)
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (OMIM:300640)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Infantile neuroaxonal dystrophy (Orphanet:35069)
Intellectual deficit - athetosis - microphthalmia (Orphanet:1236)
Intellectual deficit - hypotonia - skin hyperpigmentation (Orphanet:3050)
Intellectual deficit - polydactyly - uncombable hair (Orphanet:3082)
Intellectual deficit - short stature - hypertelorism (Orphanet:3074)
Intellectual deficit, X-linked - plagiocephaly (Orphanet:2898)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Isolated Dandy-Walker malformation (Orphanet:217)
Isolated glycerol kinase deficiency (Orphanet:408)
Isolated plagiocephaly (Orphanet:35098)
Isolated scaphocephaly (Orphanet:35093)
Jackson-Weiss syndrome (Orphanet:1540)
Jacobsen syndrome (Orphanet:2308)
Joubert syndrome 2 (OMIM:608091)
KAGAMI-OGATA SYNDROME (OMIM:608149)
Kaler-Garrity-Stern syndrome (Orphanet:2324)
Keipert syndrome (Orphanet:2662)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Lethal Larsen-like syndrome (Orphanet:2371)
Lethal recessive chondrodysplasia (Orphanet:1423)
Linear nevus sebaceus syndrome (Orphanet:2612)
MACROCEPHALY, BENIGN FAMILIAL (OMIM:153470)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES (OMIM:607597)
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA (OMIM:608624)
MOMO syndrome (Orphanet:2563)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,AND PSYCHOMOTOR DELAY (OMIM:601347)
Macrocephaly-autism syndrome (Orphanet:210548)
Marshall syndrome (Orphanet:560)
Marshall-Smith syndrome (Orphanet:561)
Megalencephaly (Orphanet:2477)
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus (Orphanet:83473)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067)
Metaphyseal chondrodysplasia, Schmid type (Orphanet:174)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type (Orphanet:85172)
Microgastria - limb reduction defect (Orphanet:2538)
Microphthalmia - microtia - fetal akinesia (Orphanet:2547)
Microphthalmia with limb anomalies (Orphanet:1106)
Miller-Dieker syndrome (Orphanet:531)
Monosomy 13q14 (Orphanet:1587)
Mosaic trisomy 14 (Orphanet:1703)
Mosaic trisomy 8 (Orphanet:96061)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mowat-Wilson syndrome (Orphanet:2152)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 2, attenuated form (Orphanet:217093)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
Mulibrey nanism (Orphanet:2576)
Multiple epiphyseal dysplasia, Al-Gazali type (Orphanet:166024)
NOONAN SYNDROME 3 (OMIM:609942)
Neonatal adrenoleukodystrophy (Orphanet:44)
Neurofaciodigitorenal syndrome (Orphanet:2673)
Non-distal trisomy 10q (Orphanet:1695)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
OTOFACIOOSSEOUS-GONADAL SYNDROME (OMIM:601976)
Oculocerebrorenal syndrome (Orphanet:534)
Omodysplasia (Orphanet:2733)
Opitz G/BBB syndrome (Orphanet:2745)
Opsismodysplasia (Orphanet:2746)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Orofaciodigital syndrome type 3 (Orphanet:2752)
Orofaciodigital syndrome type 5 (Orphanet:2919)
Osteocraniostenosis (Orphanet:2763)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteogenesis imperfecta type 3 (Orphanet:216812)
Osteoglophonic dwarfism (Orphanet:2645)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Osteoporosis - macrocephaly - blindness - joint hyperlaxity (Orphanet:2787)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 1 (Orphanet:90650)
PELGER-HUET ANOMALY (OMIM:169400)
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES (OMIM:602249)
Parastremmatic dwarfism (Orphanet:2646)
Pectus excavatum - macrocephaly - dysplastic nails (Orphanet:2835)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Peters-plus syndrome (Orphanet:709)
Pierre Robin syndrome - faciodigital anomaly (Orphanet:2888)
Pitt-Hopkins-like syndrome 2 (OMIM:614325)
Pseudoaminopterin syndrome (Orphanet:221120)
Pycnodysostosis (Orphanet:763)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase deficiency (Orphanet:765)
RENAL AND MULLERIAN DUCT HYPOPLASIA (OMIM:266810)
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
RUIJS-AALFS SYNDROME (OMIM:616200)
Retinohepatoendocrinologic syndrome (Orphanet:3087)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 1 (Orphanet:309789)
Ring chromosome 10 (Orphanet:1438)
Ring chromosome 8 (Orphanet:1450)
Robinow-like syndrome (Orphanet:3105)
Rothmund-Thomson syndrome (Orphanet:2909)
Rothmund-Thomson syndrome type 2 (Orphanet:221016)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
Rudiger syndrome (Orphanet:3118)
SCHIZOPHRENIA 1 (OMIM:181510)
SCLEROSTEOSIS 2 (OMIM:614305)
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
SHORT syndrome (Orphanet:3163)
SILVER-RUSSELL SYNDROME (OMIM:180860)
SOTOS SYNDROME 1 (OMIM:117550)
SPONASTRIME dysplasia (Orphanet:93357)
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Sanfilippo syndrome type D (Orphanet:79272)
Sanjad-Sakati syndrome (Orphanet:2323)
Schinzel-Giedion syndrome (Orphanet:798)
Sclerosteosis (Orphanet:3152)
Severe achondroplasia - developmental delay - acanthosis nigricans (Orphanet:85165)
Severe combined immunodeficiency due to adenosine deaminase deficiency (Orphanet:277)
Short rib-polydactyly syndrome (Orphanet:1505)
Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Sialidosis type 1 (Orphanet:812)
Sialuria (Orphanet:3166)
Silver-Russell syndrome (Orphanet:813)
Smith-Magenis syndrome (Orphanet:819)
Sotos syndrome (Orphanet:821)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Orphanet:93360)
Stüve-Wiedemann syndrome (Orphanet:3206)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (Orphanet:308386)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B (Orphanet:308393)
Symptomatic form of Coffin-Lowry syndrome in female carriers (Orphanet:276630)
Syndromic diarrhea (Orphanet:84064)
Syndromic multisystem autoimmune disease due to Itch deficiency (Orphanet:228426)
TEMPLE SYNDROME (OMIM:616222)
THREE M SYNDROME 1 (OMIM:273750)
THREE M SYNDROME 2 (OMIM:612921)
THREE M SYNDROME 3 (OMIM:614205)
Teebi-Shaltout syndrome (Orphanet:3291)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Temtamy syndrome (Orphanet:1777)
Tetrasomy 12p (Orphanet:884)
Thanatophoric dysplasia (Orphanet:2655)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thanatophoric dysplasia type 2 (Orphanet:93274)
Thin ribs - tubular bones - dysmorphism (Orphanet:1506)
Torg-Winchester syndrome (Orphanet:3460)
Treacher-Collins syndrome (Orphanet:861)
Tricho-dento-osseous syndrome (Orphanet:3352)
Trichomegaly - retina pigmentary degeneration - dwarfism (Orphanet:3363)
Trichorhinophalangeal syndrome type 1 and 3 (Orphanet:77258)
Triopia (Orphanet:3374)
Trisomy 1q (Orphanet:261344)
Trisomy 20p (Orphanet:261318)
Trisomy 5p (Orphanet:1742)
Ulnar/fibula ray defect - brachydactyly (Orphanet:52056)
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
W syndrome (Orphanet:2804)
White matter hypoplasia - corpus callosum agenesis - intellectual deficit (Orphanet:3207)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Wolf-Hirschhorn syndrome (Orphanet:280)
X-linked Opitz G/BBB syndrome (Orphanet:306597)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
X-linked dominant chondrodysplasia, Chassaing-Lacombe type (Orphanet:163966)
X-linked hypohidrotic ectodermal dysplasia (Orphanet:181)
X-linked hypophosphatemia (Orphanet:89936)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual deficit with marfanoid habitus (Orphanet:776)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)
Zunich-Kaye syndrome (Orphanet:3474)