X-linked mandibulofacial dysostosis

X-linked mandibulofacial dysostosis is an extremely rare condition that affects many parts of the body and is present from birth. People with this condition often experience a variety of physical differences, including changes to the head and face, such as a small head (microcephaly), underdeveloped cheekbones (malar hypoplasia) with downslanting eye openings, a high-arched palate, and ears that may appear low-set or protruding. In addition, affected individuals can show a smaller than normal jaw (micrognathia), short stature, and hearing loss in both ears. Some people may face challenges with learning. Less commonly, additional features such as undescended testicles (cryptorchidism), heart valve issues, uneven body growth, or a sunken chest (pectus excavatum) may be observed. The condition is known by several names that reflect its features and genetic association with the X chromosome.

Symptoms of this condition include a small head, underdeveloped cheekbones with eye slant changes, a highly arched palate, and ears that may seem low-set or stick out. Other signs include a small jaw, short stature, hearing loss in both ears, and difficulties with learning. Sometimes, additional symptoms like undescended testes, heart valve problems, body asymmetry, and a sunken chest are also reported.

This condition is named to reflect its association with the X chromosome, suggesting an X-linked pattern of inheritance. However, specific genetic changes or risk factors have not been clearly identified from the current information available.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.