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Craniofrontonasal syndrome – Genetics Home Reference

Craniofrontonasal syndrome is a rare condition characterised by the premature closure of specific bones of the skull (craniosynostosis) through enhancement, which has an effect on the form of the head and deal with. The condition is named for the parts of the overall body that are generally influenced: the skull (cranio-), deal with (fronto-), and nose (nasal).

In men and women with craniofrontonasal syndrome, the skull bones alongside , which is the advancement line that goes above the head from ear to ear, closes early. These variations can final result in an abnormally formed head and unique facial options. The dimensions and form of facial buildings may perhaps vary concerning the suitable and remaining sides of the deal with (facial asymmetry) in persons with craniofrontonasal syndrome. Influenced persons may perhaps also have vast-set eyes (), eyes that do not level in the same path (strabismus), involuntary eye movements (nystagmus), , a , an higher lip that details outward (identified as a tented lip), or with or with out . Some influenced persons have mind abnormalities, such as absent or underdeveloped tissue connecting the remaining and suitable halves of the mind (agenesis or dysgenesis of ). Having said that, intelligence is commonly unaffected in men and women with this condition. Ladies with craniofrontonasal syndrome generally have extra severe signs and signs than influenced males, who generally have hypertelorism and seldom, cleft lip.

Other prevalent options of craniofrontonasal syndrome include things like more folds of skin on the neck (), ridged nails, unusual curving of the fingers or toes (), more fingers () or fingers that are fused with each other (), low-set breasts, a sunken chest (pectus excavatum), a backbone that curves to the side (), or narrow and sloped shoulders with minimized variety of movement. Folks with this condition may perhaps also have eyebrows that grow with each other in the middle (), with a low hairline in the back again, or wiry hair.