Phocomelia, Schinzel type

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Phocomelia, Schinzel type

Synonyms: Al Awadi-Raas-Rothschild syndrome | Aplasia/hypoplasia of limbs and pelvis | Congenital absence of ulna and fibula | Severe limb deficit

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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