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A rare genetic disorder affecting skeletal development


Classification
External resources


Antley–Bixler syndrome is a rare genetic disorder characterized by craniosynostosis, skeletal dysplasia, and other systemic abnormalities. It is named after Raymond Antley and David Bixler, who first described the condition in 1975. The syndrome is associated with mutations in the FGFR2 and POR genes, leading to abnormal development of bones and other tissues.

Presentation[edit | edit source]

Individuals with Antley–Bixler syndrome typically present with a variety of congenital anomalies. The most prominent features include:

Additional features may include genital anomalies, renal malformations, and cardiac defects.

Genetics[edit | edit source]

Antley–Bixler syndrome can be inherited in an autosomal recessive or autosomal dominant manner, depending on the underlying genetic mutation. The autosomal recessive form is often associated with mutations in the POR gene, which is involved in steroidogenesis and drug metabolism. The autosomal dominant form is linked to mutations in the FGFR2 gene, which plays a critical role in bone development.

Diagnosis[edit | edit source]

Diagnosis of Antley–Bixler syndrome is based on clinical evaluation, radiographic imaging, and genetic testing. X-rays can reveal characteristic skeletal abnormalities, while genetic testing can confirm mutations in the FGFR2 or POR genes.

Management[edit | edit source]

Management of Antley–Bixler syndrome is multidisciplinary, involving pediatricians, geneticists, orthopedic surgeons, and other specialists. Treatment focuses on addressing specific symptoms and may include:

Prognosis[edit | edit source]

The prognosis for individuals with Antley–Bixler syndrome varies depending on the severity of the condition and the presence of associated anomalies. Early intervention and comprehensive management can improve quality of life and functional outcomes.

Related pages[edit | edit source]

Gallery[edit | edit source]

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Contributors: Prab R. Tumpati, MD