It is not known exactly how often Carpenter syndrome occurs. About 100 cases have been described in the worldwide medical literature, so it is estimated that the syndrome occurs in one in 1,000,000 live births. Carpenter syndrome affects both males and females. It is inherited in an autosomal recessive manner, meaning that an individual has to receive two copies of the defective gene, one from each parent, in order to develop the syndrome.
Symptoms
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) or cone-shaped (acrocephaly).
- Facial features such as low-set, malformed ears, flat nasal bridge, wide upturned nose, downslanting 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). Some individuals may have extra fingers or toes (polydactyly).
- 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 (about 75 percent of individuals).
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. No special test has been developed to confirm the diagnosis.Treatment
Treatment of Carpenter syndrome depends on the symptoms the individual has. 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 better appearance but not necessarily better function. Physical, occupational, and speech therapy can help an individual with Carpenter syndrome reach his or her maximum developmental potential.Sources:
"Carpenter Syndrome." Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. 27 Oct 1999. U.S. National Library of Medicine. 18 Apr 2007 <http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome089.html>.
Lee, Brendan, & Soledad Kleppe. "Carpenter Syndrome." Index of Rare Diseases. 4 Apr 2007. National Organization for Rare Disorders. 18 Apr 2007 <http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Carpenter%20Syndrome>.
