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).

Synonyms: Diastrophic dysplasia

This is just here as a test because I lose it

Term information

database cross reference
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OMIM:222600

ICD-10:Q77.5

UMLS:C0220726

notation

ORPHA:628