Acrofrontofacionasal dysostosis
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
- Medical encyclopedia article on Acrofrontofacionasal dysostosis
- Wikipedia's article - Acrofrontofacionasal dysostosis
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