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Congenital craniofacial deformities

Occurring in about 1 in every 700 live births, cleft lip and cleft palate are easy to identify. But what about the other common craniofacial anomalies?


1. This youngster is being followed for symptoms related to his right-sided cranial asymmetry noted at birth, including neurologic impairment (sensorineural hearing loss and visual problems including strabismus) and breathing problems; developmental delay and/or intellectual disability; and hydrocephalus. The hands and feet are normal.

Source: By Michael L. Kaufman at the English language Wikipedia, CC BY-SA 3.0

Diagnosis: Craniosynostosis, also known as acrocephalosyndactyly, is a condition in which the skull sutures close prematurely. This can cause pressure to build up inside the head and skull or facial bones, leading to a misshapen head and distinctive facial features—ocular hypertelorism, proptosis, midface hypoplasia, small beaked nose, and prognathism—and occasionally abnormal fingers and toes.

Mutations of the FGFR gene, which regulates the fibroblast growth factor receptor protein, are responsible for the eight disorders comprising the FGFR-related craniosynostosis spectrum. The protein plays an important role in bone growth, particularly during embryonic development. For example, this protein signals certain immature cells in the developing embryo to become bone cells in the head, hands, feet, and other tissues.

For more information, see Robin NH, MD, Falk MJ, Haldeman-Englert CR. FGFR-related craniosynostosis syndromes. In: GeneReviews® [Internet]. Pagon RA, Adam MP, Ardinger HH, et al, eds. Seattle: University of Washington, Seattle; 1993-2016.

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