Complete Information on Apert syndrome with Treatment and Prevention

Individuals with Apert syndrome have webbed or fused fingers and toes. The severity of the fusion varies; at a minimum, three digits on each hand and foot are fused together. In the most severe cases, all of the fingers and toes are fused. Less commonly, people with this condition may have extra fingers or toes. Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. It is speculated that older fathers are more likely to have mutations in the chromosomes of their sperm.

Apert syndrome is detected in the newborn period due to craniosynostosis and associated findings of syndactyly in the hands and feet. The major attribute of this syndrome is syndactyly of the hands and feet. Commonly there is fusion of fingers or toes with usually an equal amount on both sides. Almost all cases of Apert syndrome result from new mutations in the gene, and occur in people with no history of the disorder in their family. Individuals with Apert syndrome, however, can pass along the condition to the next generation. The middle of the face in Apert's is both retruded and very hypoplastic. This causes the central midface to have a characteristic sunken-in appearance with the nose being thick and beaked. Most children with Apert syndrome are of normal intelligence but mild learning difficulty occurs in some cases.

Apert syndrome is primarily characterized by specific malformations of the skull, midface, hands, and feet. The cranial malformations are the most apparent effects of acrocephalosyndactyly. Cranial synostosis occurs, as explained above, with Brachiocephaly being the common pattern of growth. Due to the premature closing of sutures of the skull, increased cranial pressure develops which sometimes leads to mental deficiency. Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Other features of acrocephalosyndactyly may be shallow bony orbits and broadly spaced eyes.

Genetic counseling may be of value to prospective parents. There's no cure for Apert syndrome, but much can be done to prevent or treat complications and help the child grow as normally as possible. Surgery is needed to prevent the closing of sutures in the skull from damaging brain development. The child may need care from many different specialists over the years, including craniofacial surgeons, speech therapists and ophthalmologists. Combined orthodontic and orthognathic surgery can help to relieve some of the facial deformities, such as the flat or concave face. One important aim of the treatment is to prevent a build-up of pressure on the brain. Additionally, aggressive surgery is needed to separate as many fingers and toes as possible in life. The fingers may be separated to improve hand movement and the toes separated if they interfere with walking.