acrocraniofacial dysostosis

Acrocraniofacial dysostosis is a very rare condition described in two sisters. It is a type of acrofacial dysostosis that involves differences in the development of the head, face, and limbs. The condition is characterized by distinct facial features such as a pointed head (acrocephaly), widely spaced eyes (ocular hypertelorism), drooping eyelids (ptosis), and other anomalies of the eyes and nose. In addition to the facial features, people with this condition may have short stature, cleft palate, a small jaw (micrognathia), abnormal external ears, and a range of other skeletal abnormalities. Radiological studies have also revealed various bone-related differences in those affected. Information on acrocraniofacial dysostosis remains very limited, and it was last described in the literature in 1988.

The symptoms of acrocraniofacial dysostosis include short stature, an abnormally shaped head (acrocephaly), widely spaced eyes (ocular hypertelorism), drooping eyelids (ptosis), and protruding eyes (ocular proptosis). Other features noted include downward slanting eye openings, a high nasal bridge, upward turned nostrils, a short philtrum, cleft palate, a small jaw (micrognathia), unusual external ear shape, pits near the ears, mixed hearing loss, bulbous fingers, foot abnormalities, and a chest deformity called pectus excavatum. Additionally, various radiological abnormalities have been observed.

Information about causes is currently limited for this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

There have been no further descriptions in the literature since 1988. Information about current research and future directions is currently limited for this condition.