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Diastrophic dysplasia

Disease Export to PDF
Name:
Diastrophic dysplasia
Description:
A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).
ORPHAcode:
628
Synonyms:
Diastrophic dwarfism
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
SLC26A2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14