Spondyloepiphyseal dysplasia with metatarsal shortening

Orpha code: 137678OMIM code: 609162

Definicja

A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.

Disease data
Klasyfikacja

Disease

Synonimy
Czech dysplasia, metatarsal type
SED with metatarsal shortening
Kod ORPHA
137678
Kod OMIM
609162
Kod ICD10
Q77.7
Kod ICD11
LD24.3

No additional description.

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