24October2017

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Adams-Oliver Syndrome- Drug Today Medical Times

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 Adams-Oliver syndrome (AOS) is an extremely rare inherited disorder that occurs at birth. The characteristics include  defects of the scalp and deformoties of fingers, toes, arms and legs. The physical abnormalities associated with this disorder vary greatly among affected individuals.

The prevalence of AOS is very rare. It seems to affects male and females in equal numbers. It is understood that only 125 individuals have been reported to be affected with AOS in medical literature.

Some cases of AOS could be very mild while others could be very severe. In infants with AOS, scalp defects are present at birth (congenital) and may include one or multiple hairless scarred areas that may have abnormally wide (dilated) blood vessels directly under the affected skin. In severe cases, an underlying defect of the bones of the skull may also be present.

Additionally, infants with this condition typically have deformation of hands, arms, feet and legs. These range from abnormally short (hypoplastic) fingers and toes to absent hands and/or lower legs.

In some cases, additional abnormalities may also be present. Most cases of AOS appear to follow autosomal dominant inheritance but autosomal recessive inheritance has also been reported.

Most cases of AOS appear to follow autosomal dominant inheritance. Dominant genetic disorders happen when only a single copy of an abnormal gene is essential to cause a particular disease.

The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females.