Carpenter's syndrome is a rare genetic disease that is among the group of disorders of acrocephalopolisindactyly . Individuals with this syndrome are recognized by the flat skull, peculiar face, shortening of the fingers and toes, which are usually glued to one another, malformations in the forearms, extra fingers, mental retardation and motor difficulty.
Symptoms are present from birth and in development traits such as obesity and defects in the reproductive system are observed. The syndrome is caused by an early fusion of the skull sutures and its diagnosis is made by observing the specific characteristics and DNA tests.
Treatment can be done through plastic and orthopedic surgeries, early skull surgery increases the chances of normal mentality. Frequent medical follow-up is advisable as this syndrome may be associated with heart disease, umbilical hernia and retention of teeth.
