Carpenter Syndrome - Signs and Symptoms

Signs and Symptoms

The primary diagnostic factor is a malformation of the skull. The two most common types of craniosynostosis are sagittal and bicoronal. Sagittal craniosynostosis manifests itself by causing a long narrow skull. It is quantitatively determined by measuring the anterior to posterior (front to back) diameter of the skull. An increased A-P diameter indicates a malformed fusion of the sagittal suture. Individuals affected with sagittal craniosynostosis have narrow, prominent foreheads and the back of the head is much larger than normal. The “soft spot” is very small or missing altogether with this particular type of craniosynostosis.

The second common type of skull malformation is bicoronal craniosynostosis is characterized by a wide, short skull. In this particular type of craniosynostosis the A-P diameter is smaller than in normal individuals. These individuals have malformed eye sockets and foreheads. The eye sockets are much smaller than normal and often cause visual impairment. Complications may include damage to the optic nerve, resulting in a decrease in visual clarity, bulging eye balls as a result of shallow eye orbits which usually causes some sort of damage to the cornea (the outer layer of the eye). Bicoronal craniosynostosis may also result in widely spaced eyes and narrowing of the sinuses and tear ducts that may result in inflammation of the mucous membranes of the exposed portion of the eye.

In addition to the previously named complications of bicoronal craniosynostosis, many babies will also be affected by hydrocephalus, more commonly known as water on the brain. Hydrocephalus results in increased pressure on the brain which can cause permanent brain damage if not treated promptly. An abnormally highly arched palate is also seen in affected individuals causing dental problems and the thrusting forward of the lower jaw. Individuals affected by Carpenter syndrome often experience cutaneous syndactyly (fusion of the digits) or polydactyly (presence of extra digits) of the toes more often than fingers. Individuals also have short fingers.

Approximately one third of individuals born with Carpenter Syndrome have a type of heart defect. Commonly seen heart defects may include: narrowing of the pulmonary artery, transposition of the major blood vessels, or the presence of an abnormally large vena cava, which delivers blood back to the heart from the head, neck, and upper limbs. The testes of males affected by Carpenter Syndrome may also fail to descend (Paul A. Johnson, 2002).