A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly) broad depressed nasal bridge narrow maxillae abnormalities of the hands and feet (polydactyly brachydactyly syndactyly clinodactyly camptodactyly ulnar deviation) obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disabaility. There have been no further descriptions in the literature since 1992.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Syndromes Without A Name (SWAN) Australia
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