What is Adams-Oliver Syndrome & How is it Treated?

Adams-Oliver Syndrome is a very rare inherited condition in which there are abnormalities of the scalp along with significant abnormalities of the fingers, toes, arms, and legs. The abnormalities associated with Adams-Oliver Syndrome although are variable and for some individuals it may be mild whereas for some the abnormalities may be severe.

Children born with Adams-Oliver Syndrome will tend to have scalp defects to include multiple areas which will be scarred and hairless which may have abnormally dilated blood vessels just beneath the affected areas. In severe cases of Adams-Oliver Syndrome, there will be visible deformities of the skull and other bones of the body.

Additionally, the infant suffering from Adams-Oliver Syndrome may have abnormally shortened fingers and toes and in some extreme cases there may be complete absence of hands and lower part of the legs.

In majority of the cases, this condition follows an autosomal dominant trait meaning that only one copy of a defective gene is enough from any parent for an offspring to develop Adams-Oliver Syndrome, although in some cases autosomal recessive trait have also been noted to cause Adams-Oliver Syndrome.

The exact cause of Adams-Oliver Syndrome is still not known but researchers believe it to be caused by reduced or interrupted blood flow through some arteries during the development of the fetus. These arteries usually are the subclavian artery or the vertebral artery. As stated, Adams-Oliver Syndrome follows an autosomal dominant trait in majority of the cases but some cases have been identified as autosomal recessive of Adams-Oliver Syndrome.

Infants born with Adams-Oliver Syndrome will have classic presentation of hairless scarred areas on the scalp. These lesions may be mild to severe but usually their depth is variable. These lesions in some cases tend to get infected and may also ulcerate, although mostly these tend to heal on their own in a few months’ time.

As a result of the wide blood vessels due to Adams-Oliver Syndrome, there may be hemorrhage which may complicate the condition a bit. Apart from the scalp deformities, there are also significant musculoskeletal abnormalities seen with Adams-Oliver Syndrome. These abnormalities tend to range from mild to severe.

There may be bone defect or even some cases of complete absence of bone in some areas of the skull. The bones defects in skull may be in cases so severe that the underlying tissues may get exposed predisposing the child to bacterial infections.

Other musculoskeletal abnormalities as a result of Adams-Oliver Syndrome are malformations fingers, in the toes or hands which may be either abnormally short or in some cases may be completely absent. Webbed toes and hypoplastic toenails are also one of the characteristic features of Adams-Oliver Syndrome.

Adams-Oliver Syndrome can be easily suspected and diagnosed at the time of birth of the child just by visual inspection of the scalp defects in conjunction with malformation of the fingers of the hands and toes. This diagnosis may be further confirmed with a detailed family history to determine whether any other member of the family has had a diagnosis of Adams-Oliver Syndrome.

In case if there is a family history of Adams-Oliver Syndrome, then a prenatal ultrasound may be recommended to check whether the baby to be born carries this disease condition or not. Advanced imaging studies in the form of MRI or CT scan are also of great value in confirmatively diagnosing Adams-Oliver Syndrome.

There is no clear cut treatment for Adams-Oliver Syndrome. The treatment for this condition is basically symptomatic and supportive. The treatment for Adams-Oliver Syndrome requires a multidisciplinary effort with inputs from various specialists so as to formulate the best treatment options for the child with Adams-Oliver Syndrome.

The lesions on the scalp usually tend to heal themselves with time. In some cases, surgery may be required to correct some deformities of the scalp and other musculoskeletal abnormalities. It is also recommended that children wear protective head gear due to the dilated blood vessels to prevent any trauma to the head which can cause significant damage as the skull area is extremely sensitive in children with Adams-Oliver Syndrome.

In cases where there is absence or abnormal shortening of the fingers of the hands or toes which may not allow proper functioning of the extremity, prosthesis may be recommended to correct this. Regular cardiac monitoring is also required in case if a cardiac defect is seen in children with Adams-Oliver Syndrome.

Genetic counseling is highly recommended for families who have members affected with this disorder so as to determine the risk of having an offspring with Adams-Oliver Syndrome.

The overall prognosis of children with Adams-Oliver Syndrome is quite variable and depends on the extent and severity of the defects. If there are only minor defects that can be corrected with surgery then the child can lead a normal life. The prognosis however becomes guarded with children who have cardiac defects or problems with other vital organs of the body associated with Adams-Oliver Syndrome.