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
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Synonyms:
Absence defect of limbs, scalp and skull, Aplasia cutis congenita with terminal transverse limb defects, Congenital scalp defects with distal limb reduction, Syndromic aplasia cutis congenita congenital scalp defects with distal limb reduction, Type 2 aplasia cutis
Categories:
Genetic disorders
ICD-10-CM:
Q84.9
ICD-11 MMS:
LD2F.1Y
SNOMED CT:
34748004

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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