Carpenter syndrome is a rare genetic disorder, which is among the group of acrocephalopolisindactilia disorders . Individuals with this syndrome are recognized by the flattened skull, peculiar face, shortening of the fingers and toes, which are usually glued together, malformations in the forearms, extra fingers, mental retardation and motor difficulties.
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 specific characteristics and DNA tests.
Treatment can be done through plastic and orthopedic surgery, early skull surgery increases the chances of a normal mindset. Frequent medical follow-up is advisable, as this syndrome may be associated with heart disease, umbilical hernia and tooth retention.
