Syndrome of Apera

Syndrome Apera is a rare genetic disease characterized by syndactyly, deformity of the facial part of the skull and other defects on the part of the bone system. For the first time this syndrome was described in detail in 1906 by the French pediatrician Eugene Apert, based on the characteristic attributes and signs of nine observed patients. This genetic disease is observed in one of 16,000-20,000 newborns, regardless of gender.

Syndrome Aper causes the onset of

The Apera syndrome is caused by a fairly rare gene mutation that is responsible for the adequate formation of bone tissue and the connection of bones in the development process. Also, the causes of this syndrome include radiation exposure to the mother during pregnancy by X-rays and her infectious diseases( tuberculosis, meningitis, syphilis, rubella, influenza) that she transferred during this period. Most often this syndrome is detected in children of elderly parents. Probability of inheritance of this disease is about 50%

Syndrome Apera symptoms

The mutated gene affects the premature fusion of the cranial sutures( craniosynostosis), which leads to the development of multiple cranial defects: due to the growth of the head mainly in height, the forehead is convex and high;The eyes are deeply set and widely spaced;The face is concave or flat, the lower jaw protrudes, the root of the nose is widened. In addition, there is fusion( bone, dermal, membranous) of the fingers of the feet and hands( syndactyly), and thumbs always remain free. In some cases, dwarf growth, dysplasia of the pancreas and kidneys, heart defects, infection of the anus, malformation of the external ear, vertebral developmental defects, adiposogenital dysplasia, hearing loss can be observed. Most children experience a significant delay in mental development. On the part of the eye, the following pathological changes are observed: hypertelorism, lens subluxation, retinal pigmentary degeneration, cataracts, divergent strabismus, exophthalmos, nystagmus, ptosis, antimongolide appearance of the eye cracks.

Initial diagnosis of Aper's syndrome is performed on the basis of the child's characteristic appearance. For a more accurate picture it is necessary to perform genetic testing

Syndrome Apera treatment

Surgery is perhaps the only effective way of preventing mental retardation and correcting some physical deficiencies. The operation is performed to close the coronary suture, to prevent damage to the brain. To date, the technique of craniofacial distraction is quite widespread, which consists in the gradual extension of the skull. In order to eliminate individual facial defects, orthognathic and / or orthodontic surgical intervention is indicated.

Prognosis of future life with Aper's syndrome is unfavorable( except for children who reached adulthood without having a cardiac pathology).