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[3] [4] Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. [1] About a third of those affected have features of autism such as problems with social interactions and delayed speech. [1] Hyperactivity is common, and seizures occur in about 10%. [1] Males are usually more affected than females. [1]
The most common symptoms of Williams syndrome are heart defects and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy and low muscle tone. People with WS tend to have widely spaced teeth, a long philtrum, and a flattened nasal bridge. [8] Microcephaly is present in one-third of affected individuals.
Macroorchidism is a disorder found in males, specifically in children, where a subject has abnormally large testes. The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. [1] The condition is also a rare sign of McCune–Albright syndrome. [2]
Symptoms Gene SCS: Widely spaced eyes, low hairline, drooping eyes, interdigital webbing, deformed ears, crossed eyes, and downward sloping palpebral fissures: TWIST1: Robinow–Sorauf syndrome: Widely spaced eyes, deviated septum, flat skull posterior, deformed ears, crossed eyes, protruding jaw, and duplication of distal phalanx: TWIST1 ...
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The nose may be small, wide, and upturned. The development of the ears and auditory system may be affected in people with Noonan's syndrome. This can result in low-set ears (in over 90%), backward-rotated ears (over 90%), thick helix (outer rim) of ear (over 90%), incomplete folding of ears, chronic otitis media (ear infections), and hearing loss.
Lujan–Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus, referring to a group of physical characteristics similar to those found in Marfan syndrome.