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Up to: Dysostosis · Congenital limb malformation · Non-syndromic limb reduction defect
Phocomelia, Schinzel type
Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.
This condition has no sub-types.