Kyphomelic dysplasia

Orpha code: 1801OMIM code: 211350

Definicja

A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide iliac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
1801
Kod OMIM
211350
Kod ICD10
Q79.8
Kod ICD11
LD24.C

No additional description.

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