Carpenters Syndrome


Description
Carpenters Syndrome: Carpenters syndrome is a very rare craniofacial condition. There are approximately 40 reported cases to date and it occurs as an autosomal recessive inherited gene.

Characteristics
The physical manifestation of Carpenters Syndrome is characterized by and include:
  • Tower shaped skull
  • Reduced height
  • Obesity
  • Mental Deficiency
Often associated with this defect is marked cranial asymmetry described as a "cloverleaf" skull anomaly caused by the craniosynostosis. Also, there is mild down sloping of the eyes, epicanthal folds, as well as malformations of the eyes themselves. The ears of these patients are low set, their necks are short, and their mandible may be somewhat small. Commonly seen in these patients is a highly arched and somewhat narrow palate. The mental deficiency seen with these patients varies from mild to severe, although multiple cases have been reported with normal intelligence.

Causes
The cause of this deformity is unknown. The occurrence of this syndrome is extremely rare. Although, some cases of effected siblings have been reported, usually the parents are not affected and the risk for future children to have Carpenters is minimal.

Expectations and Treatment
Patients with Carpenters syndrome can have some problems with speech due to the presence of the highly arched and vaulted palate. The growth of these patients is limited by the syndrome. They usually exhibit a short, stock stature.

Due to the extremely low frequency of these cases, the treatment plans vary greatly from patient to patient. The treatment plan usually includes surgery in the first year of life to correct their cranial deformity. This is performed first to insure there is adequate volume of the cranial vault to support the rapid growth of the brain during this period of life. These procedures may need to be done in one stage or two stages depending on the degree of the deformity. If necessary, midface advancement and jaw surgery are done to provide adequate orbital volume and appropriate occlusion. Hand reconstruction is done early in life by a plastic surgeon hand specialist to allow for the best functional results.