Craniofrontonasal syndrome is a uncommon situation characterized by the untimely closure of specified bones of the skull (craniosynostosis) throughout growth, which influences the condition of the head and deal with. The situation is named for the places of the system that are generally affected: the skull (cranio-), deal with (fronto-), and nose (nasal).
In men and women with craniofrontonasal syndrome, the skull bones together , which is the expansion line that goes over the head from ear to ear, closes early. These improvements can result in an abnormally shaped head and exclusive facial characteristics. The size and condition of facial structures could differ between the ideal and still left sides of the deal with (facial asymmetry) in persons with craniofrontonasal syndrome. Influenced persons could also have huge-established eyes (), eyes that do not position in the exact way (strabismus), involuntary eye movements (nystagmus), , a , an upper lip that details outward (termed a tented lip), or with or without . Some affected persons have brain abnormalities, these kinds of as absent or underdeveloped tissue connecting the still left and ideal halves of the brain (agenesis or dysgenesis of ). However, intelligence is commonly unaffected in men and women with this situation. Females with craniofrontonasal syndrome generally have far more serious indications and indications than affected males, who normally have hypertelorism and hardly ever, cleft lip.
Other prevalent characteristics of craniofrontonasal syndrome contain additional folds of skin on the neck (), ridged nails, uncommon curving of the fingers or toes (), additional fingers () or fingers that are fused together (), low-established breasts, a sunken upper body (pectus excavatum), a backbone that curves to the aspect (), or slender and sloped shoulders with lessened assortment of movement. Folks with this situation could also have eyebrows that increase together in the center (), with a low hairline in the back again, or wiry hair.