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Approximately one third of individuals born with Carpenter syndrome have a type of heart defect. Commonly seen heart defects may include: narrowing of the pulmonary artery, transposition of the major blood vessels, or the presence of an abnormally large vena cava, which delivers blood back to the heart from the head, neck, and upper limbs.
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 ...
The pointed ear(s) in Stahl's ear is caused by misshapen cartilage. It is characterized by an extra horizontal fold of cartilage (crus). Normally, there are two: superior and inferior. In Stahl's ear, there is a third horizontal crus. The helix (or upper portion of the ear) may uncurl, giving the ear a pointed shape. [10] Author Holly Black and ...
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.
It is called preauricular sinus which, according to the U.S. National Institutes of Health, or NIH, "generally appears as a tiny skin-lined hole or pit, often just in front of the upper ear where ...
Symptoms include: [5] intellectual disability (more than half of the patients have an IQ below 50) microcephaly; sometimes pancytopenia (low blood counts) cryptorchidism in males; low birth weight; dislocations of pelvis and elbow; unusually large eyes; blindness or visual impairment; large, low-set ears; small chin due to receded lower jaw
For David Smith, playing the sport he loves has come with adaptations.. Smith was born with severe hearing loss in both of his ears and relies on lip-reading to understand what his volleyball ...
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