Don’t fight Apert syndrome alone.
Find your community on the free RareGuru App.Apert syndrome __ is characterized by fusion of the skull bones too early during development (craniosynostosis) and webbing of fingers and toes (syndactyly). Other signs and symptoms may include distinctive facial features, some of which may lead to dental and vision problems. People with Apert syndrome may also have mild to moderate intellectual disability.
Apert syndrome is caused by a change (mutation) in the FGFR2 gene. It is inherited in an autosomal dominant manner, but many cases result from a new mutation in a person with no family history of the disorder (a de novo mutation).
Treatment options depend on the symptoms in each person and may include surgery to separate the skull bones and relieve the pressure on the brain. The long-term outlook for a person with Apert syndrome can be improved with prompt diagnosis and medical attention.
Source: GARD Last updated on 05-01-20
Apert syndrome is primarily characterized by a fusion of the skull bones that occurs too early during development (craniosynostosis) and webbing of the fingers and toes (syndactyly). The early fusion of the skull causes the head to be cone-shaped (acrocephaly). This can also lead to a sunken appearance in the middle of the face (midface hypoplasia), wide-set eyes (hypertelorism), and a "beaked" nose. An underdeveloped upper jaw and shallow eye sockets can cause dental and vision problems. Craniosynostosis can also affect the development of the brain, disrupting intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability.
Additional signs and symptoms of Apert syndrome may include hearing loss, extra fingers or toes (polydactyly), heavy sweating (hyperhidrosis), oily skin with severe acne, patches of missing hair in the eyebrows, and spinal bones in the neck (cervical vertebrae) that are fused. Recurrent ear infections may be associated with an opening in the roof of the mouth (a cleft palate).
Last updated on 05-01-20
Apert syndrome can be diagnosed based on the presence of the following features:
Molecular genetic testing can help to confirm the diagnosis.
Last updated on 05-01-20
Treatment for Apert syndrome may vary depending on the specific symptoms and severity in each person, but surgery is required to prevent complete fusion of skull bones and protect brain development. Surgeries to correct symptoms affecting the brain, skull and face typically are done in stages, but the timing of surgeries as well as techniques used depend upon each child's symptoms, growth, and psychosocial development. Surgeries may be needed for the following:
Various other surgeries or treatments may also be needed. For example, people with Apert syndrome may need surgery to correct or improve the shape or position of the jaws, or for the treatment of syndactyly or other skeletal abnormalities. Orthodontic treatment may be needed when growth is complete. Management for problems with speech, language, hearing or psychosocial issues may also be needed.
Last updated on 05-01-20
Hohoff A, Joos U, Meye U, Ehmer U, Stamm T. The spectrum of Apert syndrome: phenotype, particularities in orthodontic treatment, and characteristics of orthognathic surgery. Head Face Med. 2007; 3:10.
Last updated on 04-27-20
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