Acrofrontofacionasal dysostosis

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Acrofrontofacionasal dysostosis is a rare genetic disorder characterized by abnormalities in the development of the face, head, and limbs.

Pronunciation

The term is pronounced as ak-roh-fron-toh-fay-shuh-nay-zuhl dis-oss-toh-sis.

Etymology

The term "Acrofrontofacionasal dysostosis" is derived from the Greek words "akron" (extremity), "prosopon" (face), and "dysostosis" (abnormal bone development).

Symptoms

Patients with Acrofrontofacionasal dysostosis often present with craniofacial abnormalities such as a prominent forehead, wide-set eyes, a flat nasal bridge, and a small jaw. Limb abnormalities may include short stature, short fingers and toes, and joint contractures.

Causes

Acrofrontofacionasal dysostosis is caused by mutations in the genes responsible for bone development. The exact genes involved are not yet known.

Diagnosis

Diagnosis of Acrofrontofacionasal dysostosis is based on clinical examination and genetic testing.

Treatment

Treatment for Acrofrontofacionasal dysostosis is symptomatic and supportive. It may include physical therapy, surgery to correct bone abnormalities, and genetic counseling.

Related Terms

See Also

External links

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