What are the other Names for this Condition? (Also known as/Synonyms)

• Absence Defect of Limbs, Scalp, and Skull
• Aplasia Cutis Congenita with Terminal Transverse Limb Defects
• Congenital Scalp Defects with Distal Limb Reduction Anomalies

What is Adams Oliver Syndrome? (Definition/Background Information)

• Adams Oliver Syndrome (AOS) is a very rare disorder that causes scalp, skull, and limb abnormalities. This disorder has variable penetrance, meaning that the disorder manifestation (such as the presence of physical defects, other signs and symptoms) is variable in each individual
• According to National Organization for Rare Disorders (NORD), this genetic disorder has been reported to be running in multiple members of same families for more than one generation
• The treatment of the condition is supportive with surgical management of the defects; it requires a specialized medical team. The prognosis of Adams Oliver Syndrome is variable and depends on its severity

Who gets Adams Oliver Syndrome? (Age and Sex Distribution)

• Due to the extreme rarity of Adams Oliver Syndrome, its prevalence is not known. Worldwide, around 125 cases have been reported by the scientific community
• The condition is usually present at birth (congenital in nature)
• Both males and females are affected
• It is seen all over the world; there is no particular geographical restriction
• There is also no racial or ethnic preference noticed

What are the Risk Factors for Adams Oliver Syndrome? (Predisposing Factors)

• When one or both parent(s) have Adams-Oliver Syndrome, the risk of a child being born with this disorder is 25-50%
• There is an increased chance of a child being born with the disorder, if the parents are closely related (by blood)

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Adams Oliver Syndrome? (Etiology)

• Adams-Oliver Syndrome is a genetically inherited disorder. The disorder may be manifested in an autosomal dominant manner (majority of the cases) or as an autosomal recessive trait
• This disorder is believed to occur due to interrupted (abnormal) blood flow in certain blood vessels during the fetal development stage
• When inherited in an autosomal dominant manner, the gene that is mutated in Adams-Oliver Syndrome is the ARHGAP31 or RBPJ gene
• When inherited in an autosomal recessive manner, the gene that is mutated in this disorder is the DOCK6 or EOGT gene

What are the Signs and Symptoms of Adams Oliver Syndrome?

Adams Oliver Syndrome may have a signs and symptoms that vary from one individual to another. It may be mild in one individual and severe in another. The signs and symptoms may include:

• It usually presents with the defects at birth. The most common defects are those that affect the limbs (especially lower limbs) and scalp
• Growth deficiency: The growth of the child is below the normal average growth
• Abnormal skin patches on scalp that may be bleed, get ulcerated, or scarred
• Sometimes, the scalp may not have bone underneath the defect
• Hand or foot defects, absence of some bones
• Toe or finger defects, which may be shortened or absent
• Toenails are not fully formed, presence of webbing on the toes
• Heart defects have been observed in up to 20% of the cases. The most common heart defect observed is ventricular septal defect (VSD), a condition in which there is an abnormal opening between the 2 ventricles (which are the 2 lower chambers of the 4-chambered heart)
• Central nervous system, eye, liver, or pulmonary artery of the lungs may be affected in some individuals

How is Adams Oliver Syndrome Diagnosed?

The following tools are used in the diagnosis of Adams Oliver Syndrome:

• Thorough evaluation of the individual’s medical history and a complete physical examination
• During history taking, the physician may want to know the following:
  • When the symptoms began and whether they are becoming worse
  • About the family history of the disorder, members affected, etc 
• The diagnosis is suspected at birth (or even before birth during a prenatal ultrasound) based on the characteristic features

The clinical diagnosis of Adams-Oliver Syndrome is made based on 2 major criteria. When one condition of each major and minor criterion is present, it would be suggestive of Adams-Oliver Syndrome:

• Major criteria:
  • Limb defects
  • Aplasia cutis congenital (absence of skin)
  • Family history of Adams Oliver Syndrome
• Minor criteria:
  • Cutis marmorata (skin has marbled appearance in cold temperatures)
  • Congenital heart defect
  • Vascular problems             
• Cardiac diagnostic tests, such as echocardiography, may be performed in all individuals with this disorder, as 20% of the affected individuals may have associated cardiac defects

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Adams Oliver Syndrome?

Complications of Adams Oliver Syndrome may include:

• The scalp deformities may bleed or may become the entry point for germs to cause meningitis (infection of tissue covering the brain)
• Disability due to limb defects
• Heart defects may progress to heart failure, if it is not promptly diagnosed and treated

How is Adams Oliver Syndrome Treated?

The treatment options for Adams Oliver Syndrome are aimed at treating the various congenital defects and offering symptomatic support. They may include:

• Orthopedic consult and surgery for scalp and limb defects
• Prosthesis for the affected limbs

Generally, a multidisciplinary team approach involving orthopedicians, pediatricians, cardiologists, physical therapists, or social workers may be required.

How can Adams Oliver Syndrome be Prevented?

• Currently, there are no specific methods or guidelines to prevent Adams Oliver Syndrome, since it is a genetic condition
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Adams Oliver Syndrome? (Outcomes/Resolutions)

• The long term prognosis of Adams Oliver Syndrome is not described adequately due to the limited number of cases reported worldwide and limited extended follow-up of affected individuals
• However, the prognosis depends on the major symptoms that are present in the individual
• Scientists believe that the affected individuals could have a normal lifespan, as long as there are no major organ anomalies associated with the condition

Additional and Relevant Useful Information for Adams Oliver Syndrome:

• Prenatal testing is encouraged, as it allows the healthcare provider to assess the risk of developing the disorder in the child, and provide supportive measures at an early stage
• There are support groups such as Birth Defect Research for Children and Adams Oliver Support that are available to parents, who have children with Adams-Oliver Syndrome