Spondyloepiphyseal dysplasia with metatarsal shortening

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Name:
Spondyloepiphyseal dysplasia with metatarsal shortening
Description:
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.
ORPHAcode:
137678
Synonyms:
Czech dysplasia, metatarsal type
SED with metatarsal shortening
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14