Dyssegmental dysplasia, Silverman-Handmaker type [DS:H02155] Schwartz-Jampel syndrome [DS:H01777] Simpson-Golabi-Behmel syndrome, type 1 [DS:H01215] Omodysplasia 1 [DS:H02154] Multiple exostoses [DS:H00122]
Description
Defects in heparan sulfate proteoglycans (HSPGs), which present in cartilage, are associated with skeletal growth disorders. Mutations in either HS biosynthetic enzymes or HS proteoglycan core proteins have been reported so far.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00493 Heparan sulfate proteoglycan gene defects
LD2Z Multiple developmental anomalies or syndromes, unspecified
H00493 Heparan sulfate proteoglycan gene defects