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Genetics Home Reference: Gorlin-Chaudhry-Moss syndrome

Gorlin-Chaudhry-Moss syndrome is a condition that affects many parts of the body. The signs & symptoms of this disorder are apparent from birth or infancy.

Gorlin-Chaudhry-Moss syndrome is characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head & face. Many people with this disorder have a premature fusion of skull bones along the , the growth line that goes over the head from ear to ear. These changes can result in a head that is abnormally wide & pointed at the top (acrobrachycephaly). Affected individuals also have distinctive facial characteristics that can include a flat or sunken appearance of the middle of the face (), & small eyes (microphthalmia) with narrowed openings (narrowed palpebral fissures). Affected individuals may also have farsightedness () & dental problems such as small teeth (microdontia) or fewer teeth than normal (hypodontia).

Many people with Gorlin-Chaudhry-Moss syndrome have a lack of fatty tissue under the skin (lipodystrophy). The lack of fat, together with thin, wrinkled, loose skin & veins visible beneath the skin, makes affected individuals look older than their biological age. This appearance of premature aging is sometimes described as progeroid.

Affected individuals also have excessive hair growth (hypertrichosis) on their face & body. They have a low hairline on the forehead & their scalp hair is often coarse. People with Gorlin-Chaudhry-Moss syndrome also have shortened bones at the ends of the fingers & toes (short distal phalanges). Affected females have unusually small external genital folds (hypoplasia of the labia majora).

Some individuals with Gorlin-Chaudhry-Moss syndrome have mild developmental delay but intelligence is usually normal in this disorder, as is life expectancy.

Source: ghr.nlm.nih.gov

Updated: March 4, 2018 — 4:31 pm

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