Adams-Oliver syndrome

What is Adams-Oliver syndrome?

Adams-Oliver syndrome is a rare condition characterised by various malformations of the limbs and abnormal skin development, particularly on the scalp.

Adams-Oliver syndrome is also known as:

• Absence defect of limbs, scalp and skull
• Aplasia cutis congenita with terminal transverse limb defects
• Congenital scalp defects with distal limb reduction 

Who gets Adams-Oliver syndrome?

Adams-Oliver syndrome is considered to be very rare, with an incidence of about 1 in 225,000 live births. The aetiology is unknown. However:

• Family history is a risk factor; a parent who is a carrier has a 50% chance of passing this syndrome to offspring
• The risk appears to be the same for males and females
• No racial/ethnic preference has been discovered 

What causes Adams-Oliver syndrome?

Adams-Oliver syndrome is caused by genetic mutations in at least 6 genes: 

• ARPGAP31, DLL4, DOCK6, EOGT, NOTCH1 or EBPJ genes involved
• Each of these genes play a pivotal role in embryonic development
• Inheritance pattern can be autosomal dominant or, less commonly, autosomal recessive

What are the clinical features of Adams-Oliver syndrome?

The primary features of Adams-Oliver syndrome include: 

• Aplasia cutis congenita. This describes localised areas of missing skin on the scalp which are scarred and hairless; these lesions can become infected and there can be underlying deformity of the bone.

• Malformation of the limbs. This can include nail abnormalities, fusion of digits (syndactyly) or short digits (brachydactyly) or missing digits (oligodactyly)

• Cutis marmorata telangiectatica congenita. This is marked by a net-like pattern of red or purple on the skin and is due to blood vessel abnormalities.

• Other features include cardiac defects, pulmonary hypertension and developmental disability.

Diagnosis is based on clinical signs and symptoms, patient/family history and imaging.

What is the treatment for Adams-Oliver syndrome?

There is no cure for Adams-Oliver syndrome; treatment focuses in on symptom management and can include:

• Skin grafting and cranial or other surgery to repair skin lesions/skull abnormalities
• Physical therapy, surgery and use of prostheses for limb malformations
• Lifestyle modifications such as use of helmets while playing to protect skull
• Regular medical check-ups

What is the outcome for Adams-Oliver syndrome?

Long-term prognosis for Adams-Oliver syndrome is difficult to predict: it is not adequately described in medical literature due to a dearth of cases. 

It should be noted that, in absence of major abnormalities, those with this condition should have a normal lifespan.