Catalog
Diastrophic dysplasia
Link to WHO Definition
Diastrophic dysplasia – http://id.who.int/icd/entity/1681550532
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)