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

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/207410