Craniofrontonasal syndrome – Genetics Home Reference

Allan I. Fleming

Craniofrontonasal syndrome is a uncommon problem characterized by the untimely closure of certain bones of the skull (craniosynostosis) during growth, which has an effect on the condition of the head and encounter. The problem is named for the parts of the human body that are generally influenced: the skull (cranio-), encounter (fronto-), and nose (nasal).

In people with craniofrontonasal syndrome, the skull bones alongside , which is the expansion line that goes over the head from ear to ear, closes early. These variations can consequence in an abnormally formed head and exclusive facial options. The dimensions and condition of facial structures may perhaps vary involving the right and still left sides of the encounter (facial asymmetry) in individuals with craniofrontonasal syndrome. Impacted individuals may perhaps also have extensive-established eyes (), eyes that do not stage in the exact route (strabismus), involuntary eye movements (nystagmus), , a , an upper lip that points outward (identified as a tented lip), or with or devoid of . Some influenced individuals have brain abnormalities, this kind of as absent or underdeveloped tissue connecting the still left and right halves of the brain (agenesis or dysgenesis of ). However, intelligence is ordinarily unaffected in people with this problem. Ladies with craniofrontonasal syndrome generally have additional intense indicators and indicators than influenced males, who normally have hypertelorism and seldom, cleft lip.

Other frequent options of craniofrontonasal syndrome contain excess folds of skin on the neck (), ridged nails, unusual curving of the fingers or toes (), excess fingers () or fingers that are fused together (), very low-established breasts, a sunken chest (pectus excavatum), a spine that curves to the aspect (), or slim and sloped shoulders with lessened range of movement. People today with this problem may perhaps also have eyebrows that improve together in the center (), with a very low hairline in the back, or wiry hair.

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