Carpenter’s Syndrome

Carpenter’s Syndrome is a very rare craniofacial birth defect that is characterized by an underdeveloped jaw webbed or additional fingers or toes, tower-shaped skull, mental Carpenters Syndrome 300x172 Carpenters Syndromedeficiency, obesity, deformed ears, highly arched palate, widely spaced eyes, and/or low-set and reduced height.

About 50% of individuals with this disease also have heart defects. Individuals with Carpenter’s syndrome may experience some complications with speech due to the presence of the vaulted palate and highly arched palate. The growth for these individuals is limited by the syndrome, and they usually appear to be a stock, short stature. The treatment of this disease includes surgery in the 1st year of life to correct their cranial deformity. This is a procedure done first to make sure that adequate volume of the cranial vault supports the fast growth of the individual’s brain during this life period.

These surgeries may be performed in 1 or 2 stages depending on the severity of the deformity. If needed, jaw surgery and mid-face surgery may be performed to provide proper occlusion and adequate orbital volume. In patients with Carpenter’s syndrome, hand reconstruction is performed early on in life by a plastic surgeon specializing in hands in order to get best functional results.

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