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 RBPJ 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.