Apert's syndrome - a rare genetic disorder that is characterized by syndactyly, deformation of the front part of the skull and other defects on the part of the skeletal system.The first detailed description of the syndrome in 1906, the French pediatrician Eugene Apert, based on specific attributes and features nine of the observed patients.This genetic disorder occurs in one of 16,000 - 20,000 newborns, regardless of gender
Apert syndrome causes of
Apert syndrome is caused quite a rare mutation of a gene that is responsible for adequate bone formation and bone compound in development.It also causes of this syndrome include exposure of the mother during pregnancy x-rays and transferred it in this period infectious diseases (tuberculosis, meningitis, syphilis, measles, flu).Most often this syndrome is diagnosed in children of older parents.The probability of inheriting the disease is about 50%
syndrome Apert symptoms
mutated gene affects premature fusion of skull sutu
initial diagnosis of Apert syndrome is carried out based on the characteristic appearance of the disease the child.For a more accurate picture is necessary to conduct genetic testing
Apert syndrome treatment
of surgery is probably the only effective way to prevent mental retardation and some physical correction of deficiencies.The surgery is performed to close the coronary suture, to prevent brain damage.Today quite common craniofacial distraction technique, which is the gradual stretching of the skull.In order to eliminate individual facial defects shown holding orthognathic and / or orthodontic surgery.
forecast later in life with Apert syndrome unfavorable (except children have reached adulthood without the presence of heart disease).