Syndrome, trisomy 18
There are three instead of the normal two chromosomes #18. Children with this condition have multiple malformations and mental retardation due to the extra chromosome #18. The children characteristically have low birth weight, small head (microcephaly), small jaw (micrognathia), malformations of the heart and kidneys, clenched fists with abnormal finger positioning, and malformed feet. The mental retardation is profound with the IQ too low to even test. Nineteen out of 20 (95%) of these children die before their first birthday. The condition is also called Edwards syndrome in honor of the British physician and geneticist John Edwards who discovered the extra chromosome in 1960.
- Syndrome, Usher
A genetic disorder characterized by hearing impairment and an eye disorder called retinitis pigmentosa in which vision worsens over time. Some people with Usher syndrome also have balance problems. It is the most common disease that compromises both hearing and vision. More than half of all deaf-blind people have Usher syndrome. The syndrome is passed […]
- Syndrome, von Hippel-Lindau
See Von Hippel-Lindau syndrome.
- Syndrome, Werner
A premature aging disease that begins in adolescence or early in adulthood and results in apparent old age by 30-40 years of age. The characteristic features of Werner syndrome include short stature, premature graying and balding, wizened face, beaked nose, cataracts, scleroderma-like skin changes (especially in the extremities), subcutaneous calcification (deposits of calcium beneath the […]
- Syndrome, Witkop
A genetic disorder characterized by the absence of several teeth at birth and abnormalities of the nails. The disorder is also known as hypodontia and nail dysgenesis or, more picturesquely, as the tooth and nail syndrome (TNS). The tooth and nail defects in the syndrome are highly variable. The number and type of congenitally missing […]
- Syndrome, Wolff-Parkinson-White
Louis Wolff, Sir John Parkinson, and Paul Dudley White.