Carpenter syndrome is an extremely rare genetic disorder that causes craniofacial and skeletal abnormalities. It is part of a family of conditions known under the umbrella term “acrocephalopolysyndactyly,” and is among the rarest of the diseases in this grouping. Diagnosis can be made shortly after birth in many cases, as infants can bear some unmistakable signs of this genetic disorder. This may include an abnormally shaped head and unusual facial features. Treatment options focus on supportive care for the patient and may involve a specialist with experience and training in the handling of various forms of acrocephalopolysyndactyly.
People with this condition experience an early fusion of the cranial sutures, which causes the head to have a cone-like appearance. Other facial abnormalities can include changes to the shape of the eyes and lips along with other problems with the facial structure. Surgery can be an option for some patients to change the appearance of the face and address health problems associated with the abnormalities. Skull surgery, for instance, can reduce the risk of injury to the brain as the child grows.
The fingers and toes may be partially fused, and some patients with Carpenter syndrome also have extra digits. This disorder tends to make people shorter and fatter than the rest of their families, and in some cases, obesity can be a concern. Intellectual disabilities have been documented in some cases, while other patients with Carpenter syndrome do not experience any cognitive or intellectual deficits.
Treatments for a person with Carpenter syndrome can depend on how the condition manifests. Surgical therapies are available for reconstructive and cosmetic purposes. Some people may request surgery because of concerns about teasing and other social problems associated with the physical abnormalities. Others may need surgery in order to prevent complications later in life. Children with intellectual delays may benefit from tutoring and other interventions to keep pace with their peers.
As a recessive genetic disease, Carpenter syndrome is unusual. A child needs to inherit two copies of the gene involved, and since it is rare in the general population, it is unlikely for two parents to both carry it. People with this condition who have children will pass a copy of the gene on, making their children carriers as well. Parents with concerns about this issue can meet with a genetic counselor to discuss their options. Some may consider using donor eggs or sperm to have children without perpetuating the Carpenter syndrome gene.