The dyssegmental dysplasia is a rare, autosomal recessive skeletal dysplasia with micromelia. There are two recognized types: the severe, lethal Silverman-Handmaker type (DDSH) and the milder Rolland-Desbuquois type. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. DDSH is caused by a functional null mutation of perlecan gene (HSPG2).
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
H02155 Dyssegmental dysplasia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H02155 Dyssegmental dysplasia
nt06546 IgSF CAM signaling
H02155 Dyssegmental dysplasia
