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Gorlin-Chaudhry-Moss syndrome – Genetics Home Reference

Gorlin-Chaudhry-Moss syndrome is a situation that impacts many elements of the physique. The indicators and signs of this dysfunction are obvious from start or infancy.

Gorlin-Chaudhry-Moss syndrome is characterised by the untimely closure of sure bones of the cranium (craniosynostosis) throughout growth, which impacts the form of the pinnacle and face. Many individuals with this dysfunction have a untimely fusion of cranium bones alongside the , the expansion line that goes over the pinnacle from ear to ear. These adjustments may end up in a head that’s abnormally broad and pointed on the prime (acrobrachycephaly). Affected people even have distinctive facial traits that may embody a flat or sunken look of the center of the face (), and small eyes (microphthalmia) with narrowed openings (narrowed palpebral fissures). Affected people may additionally have farsightedness () and dental issues similar to small tooth (microdontia) or fewer tooth than regular (hypodontia).

Many individuals with Gorlin-Chaudhry-Moss syndrome have an absence of fatty tissue beneath the pores and skin (lipodystrophy). The dearth of fats, along with skinny, wrinkled, free pores and skin and veins seen beneath the pores and skin, makes affected people look older than their organic age. This look of untimely growing older is usually described as progeroid.

Affected people even have extreme hair progress (hypertrichosis) on their face and physique. They’ve a low hairline on the brow and their scalp hair is commonly coarse. Individuals with Gorlin-Chaudhry-Moss syndrome even have shortened bones on the ends of the fingers and toes (quick distal phalanges). Affected females have unusually small exterior genital folds (hypoplasia of the labia majora).

Some people with Gorlin-Chaudhry-Moss syndrome have delicate developmental delay however intelligence is normally regular on this dysfunction, as is life expectancy.

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