What is Carpenter Syndrome?
Carpenter syndrome is an extremely rare genetic disorder that causes craniophacial and skeletal abnormalities. It is part of the family known as the umbrella "Acrocephalopolyysyndactyly" and is one of the most precious of the diseases in this group. The diagnosis can be made shortly after birth in many cases, as infants may carry some unmistakable signs of this genetic disorder. This may include an abnormally shaped head and unusual facial features. Treatment possibilities focus on patient support and may include a specialist with experience and training in solving various forms of acrocephalopolyysyndactyly. Other facial abnormalities may include changes in eye and lip shape along with other facial structure problems. For some patients, surgery may be able to change the appearance of and solve health problems associated with abnormalities. For example, the skull surgery can reduce the risk of brain damage as the child grows. This disorder tends to shorten and thicker than the rest isFamilies and in some cases obesity may be a problem. In some cases, mental involvement has been documented, while other patients with a carpenter do not experience any cognitive or intellectual deficits.
treatment for a person with carpentry syndrome may depend on how the condition is manifested. Surgical therapies are available for reconstruction and cosmetic purposes. Some people may apply for surgery for concerns about teasing and other social problems associated with physical abnormalities. Others may need operations to complicate complications later in life. Children with intellectual delays may benefit from tutoring and other interventions to keep up with their peers.
As a recessive genetic disease, Carpenter is unusual. The child must inherit two copies of the gene involved, and since it is rare in the normal population, it is unlikely that both parents would notSeli. People with this situation, who have children, will pass a copy of the gene, which also builds their children. Parents with concern about this problem may encounter a genetic advisor to discuss their possibilities. Some may consider using donor eggs or sperm for children without maintaining a Carpenter syndrome gene.