Spondyloepiphyseal dysplasia with metatarsal shortening

Orpha code: 137678OMIM code: 609162

Definition

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
Classification

Disease

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

No additional description.

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