Adams-Oliver syndrome (AOS) is a rare inherited condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs.
AOS affects males and females in equal numbers. AOS occurs in about 44 out of every 10 million people and is present at birth.
People with AOS may have the following symptoms –
• Absence of areas of skin (aplasia cutis congenita).These areas of absent skin will often heal without treatment a couple of months after birth. However, in severely affected patients, there is a greater chance for infection, excessive bleeding (hemorrhage), seizures, high pressure within the skull (brain herniation) and cerebrospinal fluid leakage.
• Shortened or missing fingers, hands, toes and/or feet. Some infants may have very short fingers and/or toes. In severely affected patients, the fingers, toes, hands, feet and/or lower legs may be partially or completely missing. Also, there may be webbing of the toes (syndactyly) and/or underdeveloped toenails.
• Heart problems present at birth. These include incomplete development of the left side of the heart (hypoplastic left ventricle) or a hole in the heart (septal defects) that affects how the blood flows
• Neurological concerns such as developmental delays and learning disabilities. AOS have problems with brain development such as a much smaller head than expected (microcephaly), sac-like protrusion of the brain (encephalocele), and structural issues in the brain that can lead to epilepsy and seizures.
• Kidney issues
• Eye problems. Less than 10% of people with AOS experience eye problems which may include clouding of the lens of the eyes (cataracts), eye misalignment (esotropia), and decline of the optic nerve (optic atrophy).
Mutations in the ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, or RBPJ gene can cause Adams-Oliver syndrome. Because some affected individuals do not have mutations in one of these genes, it is likely that other genes that have not been identified are also involved in this condition. Each of the known genes plays an important role during embryonic development, and changes in any one of them can impair this tightly controlled process, leading to the signs and symptoms of Adams-Oliver syndrome.
A diagnosis can be made when an individual has either of these two main features: the absence of skin or malformation of the fingers, hands, toes, and/or feet, and a single mutation in the autosomal dominant related gene (ARHGAP31, DLL4, NOTCH1, or RBPJ) or two mutations in an autosomal recessive related gene (DOCK6 or EOGT).
Treatment may require the coordinated efforts of a team of specialists. Pediatricians, orthopedic and plastic surgeons, cardiologists, ophthalmologists, physical therapists, and other health care professionals may be needed for an individual’s treatment and surveillance of skin, limb, cardiovascular, neurological and eye concerns.
In many patients, scalp defects may heal without treatment within the first few months of life. Skin grafting, skull surgery and/or other surgical procedures may be required for individuals with AOS who have skull problems. Wearing helmets may be recommended for some children with AOS to prevent trauma to the head and potential damage to the wide blood vessels.
Physical therapy, surgery, and/or the use of artificial limbs may be recommended for children who have a partial or complete absence of fingers, toes, hands, feet and/or lower legs.
A complete medical evaluation should be done to look for potential concerns with the heart. Cardiovascular issues such as structural heart problems may require surgery.
Monitoring for symptoms on a yearly basis is recommended for infants with AOS.
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