Carpenter Syndrome

Carpenter syndrome is an extremely rare birth defect that affects approximately 1 in 1,000,000 live births. Carpenter syndrome is very close to Apert syndrome and affects the skull, face, fingers, toes and heart.

Carpenter syndrome is an autosomal recessive disorder and a person must get two copies of a defective gene (one from each parent) to develop the syndrome. Because there is early fusion in the sutures of the skull, a person will usually have an abnormally shaped head.

A person with Carpenter syndrome will likely have low set ears or malformed ears, a wide nose with a flat bridge, downlanted eyelids and a small jaw. Stubby fingers/toes and webbed fingers/toes are a common symptom of Carpenter syndrome and some people with the disorder will have extra digits.

One half of sufferers will experience congenital heart defects and others will have an abdominal hernia, undescended testicles and a short stature. Most cases will involve some degree of mental retardation. A doctor will be able to diagnose the condition at birth based on the baby's physical appearance and there is no actual treatment for the condition.

Therapy and surgery for fused fingers/toes are usually the best methods of treating symptoms.