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Antley-Bixler syndrome
Genetics:
- associated with defects in FGFR2
Clinical manifestations:
- multiple congenital anomaly syndrome
- craniosynostosis
- radiohumeral synostosis
- midface hypoplasia
- malformed ears
- arachnodactyly
- multiple joint contractures
- heterogeneous disorder
- occurs with & without abnormal genitalia in both sexes
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 207410
References
OMIM :accession 207410