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: //www.orphadata.org. Data version October 2023.
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Phocomelia, Schinzel type?
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