Trisomy 18 syndrome

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.

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a condition characterized by mental retardation, scaphocephaly or other skull abnormality, micrognathia, blepharoptosis, low-set ears, corneal opacities, deafness, webbed neck, short digits, ventricular septal defects, Meckel diverticulum, and other deformities. It is due to the presence of an extra chromosome 18. Called also Edwards or trisomy E s.

Medical dictionary. 2011.

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