Carpenter syndrome

Carpenter syndrome is a rare genetic disease, which is part of the acrocephalopolisindactyly disorder group. People with this syndrome are recognized by flattened skull, particular face, shortening of the fingers and toes, which are usually glued together, malformations of the forearms, extra fingers, mental retardation and motor difficulties.

Symptoms are present from birth and development, traits such as obesity and reproductive system abnormalities are observed. The syndrome is caused by an early fusion of cranial sutures and is diagnosed by observing specific characteristics and DNA tests.

  • Treatment can be done through plastic and orthopedic surgeries.
  • Early skull surgery increases the chances of a normal mindset.
  • Frequent medical follow-up is recommended.
  • As this syndrome may be associated with heart disease.
  • Umbilical hernia and dentary retention.

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