Type II collagenopathies [DS:H00520] Spondyloepiphyseal dysplasia [DS:H02462]
Description
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Individuals with SED, Stanescu type (SEDS) are not short, although spondylar and epiphyseal abnormalities are radiologically quite conspicuous. Mutations in COL2A1 that encodes the alpha-1 chain of type II collagen, cause these diseases.
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
H00519 Spondyloepiphyseal dysplasia congenita
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H00519 Spondyloepiphyseal dysplasia congenita
