May
16
23:01
Genetic diseases

Apert Syndrome

Apert syndrome

Apert syndrome 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

res (craniosynostosis), which leads to the development of multiple cranial malformations: a result of head growth mainly high - brow convex and high;deep-set eyes, and wide apart;flat or concave face, lower jaw acts, the root of the nose enlarged.In addition, there is fusion (bone, skin, webbed) feet and hands fingers (syndactyly), the thumbs are always free.In some cases, there may be a dwarf growth, dysplasia, pancreas and kidneys, heart defects, imperforate anus, external ear malformations, malformations of the vertebrae, adiposogenital dysplasia, hearing loss.Most of the children there is a significant mental retardation.On the part of the eye observed the following pathological changes: hypertelorism, lens subluxation, pigmentary degeneration of the retina, cataract, exotropia, exophthalmos, nystagmus, ptosis, antimongoloidny kind of eye slits.

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).

service physician recruitment is relevant only for the citizens of the Russian Federation