Rhizomelic chondrodysplasia punctata

Orpha code: 177OMIM code: 600121

Definicja

A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures.

Disease data
Klasyfikacja

Disease

Synonimy
RCDP
RCDP
Kod ORPHA
177
Kod OMIM
600121
Kod ICD10
Q77.3
Kod ICD11
LD24.04

No additional description.

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