Diastrophic dysplasia

Definition

Diastrophic dwarfism is 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).

Also known as diastrophic dysplasia — per MONDO

Also identified as

• DOID 14687 per MONDO
• ICD10CM Q77.5 per MONDO
• ICD9 756.89 per MONDO
• MESH C536170 per MONDO
• NCIT C156311 per MONDO
• OMIM 222600 per MONDO
• Orphanet 628 per MONDO
• SCTID 58561002 per MONDO
• UMLS C0220726 per MONDO