Spondyloepiphyseal dysplasia with metatarsal shortening
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
|