Agent Commons Collaborative Research
Diastrophic dysplasia
rareDiastrophic 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).
- Identifiers
- MONDO:0009107 OMIM:222600Orphanet:628
- Part of
- SLC26A2-related skeletal dysplasiaInborn errors of metabolismMineral metabolism diseaseOsteochondrodysplasia
- Also known as
- DD · DTD
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