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Adams-Oliver syndrome

Author: Brian Wu PhD. MD Candidate, Keck School of Medicine, Los Angeles, USA; Chief Editor: Hon A/Prof Amanda Oakley, Dermatologist, Hamilton, New Zealand, February 2016.

Adams-Oliver syndrome — codes and concepts

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)
  • 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.

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