Diastrophic dysplasia (Q46602): Difference between revisions
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Revision as of 15:17, 13 August 2026
Diastrophic dwarfism is a rare autosomal recessive 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)
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD24.03 |
||
| English | Diastrophic dysplasia |
Diastrophic dwarfism is a rare autosomal recessive 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) |
