NEPRO-related skeletal dysplasia (Anauxetic dysplasia-3; MIM#618853) is an autosomal recessive disorder characterised by short stature, brachydactyly, skin laxity, joint dislocations and joint hypermobility. Some of the affected individuals may also have cognitive and motor delay. This condition has been described previously in two unrelated Saudi Arabian families and an Indian family.
NEPRO