Signs and Symptoms
Some of the most common signs of Carpenter syndrome include polydactyl digits or the presence of additional fingers or toes. Other common signs include webbing between the fingers and a pointed top of the head, also known as acrocephaly. Some people have impaired intelligence, but others with Carpenter syndrome are well within the normal range of intellectual abilities. Other symptoms of Carpenter syndrome may include:
Early closure (fusion) of the fibrous joints (cranial sutures) of the skull, called craniosynostosis. This causes the skull to grow abnormally and the head may seem short and broad (brachycephaly). Facial features such as low-set, malformed ears, flat nasal bridge, wide upturned nose, down-slanting eyelid folds (palpebral fissures), small underdeveloped upper and/or lower jaw. Short stubby fingers and toes (brachydactyly) and webbed or fused fingers or toes (syndactyly).
In addition, some individuals with Carpenter syndrome may have:
Congenital (present at birth) heart defects in about one-third to one-half of individuals Abdominal hernia Undescended testes in males Short stature Mild to moderate mental retardation
Prevalence
Within the United States, there are approximately just 300 known cases of Carpenter syndrome. it is an exceptionally rare disease; just 1 in 1 million births are affected.
It is an autosomal recessive disease. This means that both parents must have impacted genes in order to pass the disease onto their child. If two parents with these genes have a child who does not show signs of Carpenter syndrome, that child is still a carrier of the genes and can pass it on if their partner has it as well.
Diagnosis
Since Carpenter syndrome is a genetic disorder, an infant is born with it. Diagnosis is based on the symptoms the child has, such as the appearance of the skull, face, fingers, and toes. There is no blood test or X-ray needed; Carpenter syndrome is typically diagnosed solely through a physical examination.
Treatment
Treatment of Carpenter syndrome depends on the symptoms the individual has and the severity of the condition. Surgery may be needed if a life-threatening heart defect is present. Surgery may also be used to correct craniosynostosis by separating the abnormally fused skull bones to allow for growth of the head. This is usually done in stages starting in infancy.
Surgical separation of the fingers and toes, if possible, may provide a more normal appearance but not necessarily improve function; many people with Carpenter syndrome struggle to use their hands with normal levels of dexterity even after surgery. Physical, occupational, and speech therapy can help an individual with Carpenter syndrome reach his or her maximum developmental potential.
