AREDYLD syndrome
|
(Orphanet:1133)
|
Albright hereditary osteodystrophy
|
(Orphanet:665)
|
Alström syndrome
|
(Orphanet:64)
|
Anauxetic dysplasia
|
(Orphanet:93347)
|
Arthrogryposis multiplex congenita
|
(Orphanet:1037)
|
Bardet-Biedl syndrome 17
|
(OMIM:615994)
|
Bardet-Biedl syndrome 7
|
(OMIM:615984)
|
Brachydactyly-long thumb syndrome
|
(Orphanet:2946)
|
Bullous dystrophy, macular type
|
(Orphanet:1867)
|
CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES
|
(OMIM:609441)
|
Cardiodysrhythmic potassium-sensitive periodic paralysis
|
(Orphanet:37553)
|
Diastrophic dwarfism
|
(Orphanet:628)
|
Focal dermal hypoplasia
|
(Orphanet:2092)
|
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS
|
(OMIM:610680)
|
Harlequin ichthyosis
|
(Orphanet:457)
|
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
|
(OMIM:242100)
|
Intellectual deficit, X-linked, Vitale type
|
(Orphanet:85289)
|
Lethal multiple pterygium syndrome
|
(Orphanet:33108)
|
Metaphyseal acroscyphodysplasia
|
(Orphanet:1240)
|
Metatropic dysplasia
|
(Orphanet:2635)
|
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
|
(Orphanet:85172)
|
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
|
(Orphanet:280679)
|
Mucopolysaccharidosis type 2, attenuated form
|
(Orphanet:217093)
|
Myhre syndrome
|
(Orphanet:2588)
|
OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI
|
(OMIM:259270)
|
Orofaciodigital syndrome type 4
|
(Orphanet:2753)
|
Paraplegia - brachydactyly - cone-shaped epiphysis
|
(Orphanet:2823)
|
Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
|
(Orphanet:228190)
|
Rabson-Mendenhall syndrome
|
(Orphanet:769)
|
SCLEROSTEOSIS 2
|
(OMIM:614305)
|
Self-healing collodion baby
|
(Orphanet:281122)
|
Senior-Loken syndrome 8
|
(OMIM:616307)
|
Septo-optic dysplasia
|
(Orphanet:3157)
|
Short rib-polydactyly syndrome, Beemer-Langer type
|
(Orphanet:93268)
|
Simpson-Golabi-Behmel syndrome type 2
|
(Orphanet:79022)
|
Spondyloepimetaphyseal dysplasia, Bieganski type
|
(Orphanet:168448)
|
Spondyloepimetaphyseal dysplasia, aggrecan type
|
(Orphanet:171866)
|
Spondylometaphyseal dysplasia - cone-rod dystrophy
|
(Orphanet:85167)
|
Spondylometaphyseal dysplasia, Sedaghatian type
|
(Orphanet:93317)
|
TARSAL-CARPAL COALITION SYNDROME
|
(OMIM:186570)
|
THAI SYMPHALANGISM SYNDROME
|
(OMIM:608028)
|
TRICHORHINOPHALANGEAL SYNDROME, TYPE III
|
(OMIM:190351)
|
Ulnar hypoplasia - split foot
|
(Orphanet:1122)
|
Wolcott-Rallison syndrome
|
(Orphanet:1667)
|
X-linked lethal multiple pterygium syndrome
|
(Orphanet:79447)
|