Antley Bixler syndrome

Antley–Bixler syndrome

Antley–Bixler syndrome (pronounced: ANT-lee BIX-ler SIN-drome) is a rare, very severe genetic disorder that primarily affects the skeletal system. The syndrome is named after the two scientists, Dr. Antley and Dr. Bixler, who first described it in medical literature.

Etymology

The term "Antley–Bixler syndrome" is derived from the names of the two scientists who first described this condition in the medical literature, Dr. R. Antley and Dr. D. Bixler.

Definition

Antley–Bixler syndrome is characterized by distinctive facial features, skeletal abnormalities, and other physical problems. The most common features include craniosynostosis, which is the premature fusion of the skull bones, and radiohumeral synostosis, which is the fusion of bones in the forearm.

Symptoms

Symptoms of Antley–Bixler syndrome can vary greatly from person to person. However, common symptoms include:

• Craniosynostosis: Premature fusion of the skull bones, which can affect the shape of the head and face.
• Radiohumeral synostosis: Fusion of bones in the forearm, which can limit arm movement.
• Other skeletal abnormalities: These can include long, slender fingers and toes, and abnormalities of the ribs and spine.
• Facial abnormalities: These can include a high forehead, a flat midface, and a protruding jaw.
• Other physical problems: These can include heart defects, genital abnormalities, and respiratory problems.

Causes

Antley–Bixler syndrome is caused by mutations in the FGFR2 gene or the POR gene. It is inherited in an autosomal recessive manner, which means both copies of the gene in each cell must have mutations for the disorder to be expressed.

Diagnosis

Diagnosis of Antley–Bixler syndrome is based on a clinical evaluation, detailed patient history, and a variety of specialized tests. These tests can include genetic testing, radiographic imaging, and physical examination.

Treatment

Treatment for Antley–Bixler syndrome is symptomatic and supportive. It often involves a team of specialists, including geneticists, neurologists, orthopedic surgeons, and others. Treatment options can include surgery to correct skeletal abnormalities, physical therapy, and other supportive treatments.

See also

• Genetic disorder
• Craniosynostosis
• Radiohumeral synostosis
• FGFR2
• POR
• Autosomal recessive

External links

• Medical encyclopedia article on Antley Bixler syndrome
• Wikipedia's article - Antley Bixler syndrome

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