Adams-Oliver Syndrome: Congenital Deficiency of Limbs, Cutis, and Calvaria

Adams-Oliver Syndrome (AOS is a rare genetic condition that is characterized by congenital skull, scalp, and limb deformations. Symptoms vary between individuals — some are born with just a few defects, while others suffer from major physical abnormalities.

What is Adams-Oliver Syndrome?

Adams-Oliver Syndrome is an inborn condition affecting:

• Scalp defects
• Skull bone malformations
• Limb reduction abnormalities

Scalp defects are generally flat hairless and scarred areas with visible enlarged blood vessels underneath. It can be associated with skull base anomalies in these instances. Limb anomalies may show as short (hypoplastic) fingers or toes to missing hands, feet, or legs.

 It has variable penetrance, which means the symptoms can vary widely between people.

Other Names for Adams-Oliver Syndrome

1. A-normal limbs, scalp, and skull
2. Consabulos-Saemann-Steed Syndrome
3. ‘Aplasia Cutis Congenita with Transverse Terminal Deficiency’
4. Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts with or without Diaphragmatic Hernia
5. Aplasia Cutis Congenita-Intestinal Lymphangiectasia
6. Atrichia with Papular Lesions
7. Autosomal Dominant Aplasia Cutis Congenita
8. Congenital Scalp Electrode Syndrome
9. Limb Defects, Distal Trilaminar Cell Adhesion Disorderologie

Related symptoms:

• Autosomal recessive inheritance
• Autosomal dominant inheritance
• Syndactyly
• Abnormal blistering of the skin
• Aplasia/Hypoplasia of the skin

Causes and Inheritance

Adams-Oliver Syndrome is a hereditary condition that may be:

• Autosomal dominant_inherited
• Due to idiopathic genetic mutations

The National Organization for Rare Disorders (NORD) reports that AOS can occur in multiple family members, in different generations.

Adams-Oliver Syndrome Symptoms

The most typical symptoms are:

• Hairless areas with scars Over the scalp
• Corms with dilated blood vessels under the scalp
• Cranial defect in the skull with ectopic skin
• Short fingers and toes
• Missing hands, forearms, feet, or lower legs
• Small or missing toenails
• Mosaic skin pattern (Cutis marmorata)
• Spinal dysraphism
• Growth deficiency
• Congenital heart defects

Risk Factors

• 25–50% risk if one or both parents are affected with AOS
• Higher risk in children of consanguineous (blood-related) parents

Note: Although a risk factor increases the chance of developing a disease, it does not necessarily mean that the onset of the disease is inevitable. Similarly, the lack of risk factors does not exclude it.

How is Adams-Oliver Syndrome Diagnosed?

Diagnostic Tools:

• Examination and history
• Prenatal ultrasound (may show skull or limb deformities)
• Genomic and family history
• Risk assessment and Genetic testing

Diagnostic Criteria:

Major Criteria:

• Limb defects
• Aplasia cutis congenital (absence of the skin)
• Family history of AOS

Minor Criteria:

• Cutis marmorata
• Congenital heart defects
• Vascular abnormalities

An echocardiogram is indicated to exclude congenital heart disease, which is present in around 20% of cases.

Management of the Adams-Oliver Syndrome

There is no cure; treatment of symptoms is the cornerstone of the multidisciplinary medical management of the condition. Key treatments include:

• Surgery for defects in the scalp and extremities
• Prosthetic for the replacement of limbs
• Rehabilitation and therapeutic exercises
• Treatments offered by cardiac care center for heart defects

A specialized medical team would typically consist of:

• Pediatricians
• Orthopedic surgeons
• Cardiologists
• Therapists
• Genetic counselors

Items Adams Oliver Syndrome: Complications

• Open cap-wound infections, potentially resulting in meningitis
• Mobility impairment or disability due to limb anomalies
• Cardiovascular effects of CHD are not corrected promptly

Is It Possible to Prevent Adams-Oliver Syndrome?

There is no such thing as guaranteed prevention, but the following should help apprehend and manage risk:

• Genetic counseling for those with a family history of AOS
• Molecular testing may be used to diagnose the disorder
• Participation in research for new treatments and prevention

Get to Know Your Limb-Reduction Defects

Reduced limbs are other characteristics of Adams-Oliver Syndrome. These can be the absence of a partial, or full limb.

How Many Children Have Limb Reduction Defects?

 According to the CDC:

• Approx 1,500 infants/year are born in the U.S. with upper limb reductions
• Approximately 750 pregnancies/year are affected by lower limb reductions
• About 4 out of every 10,000 births with upper limb reductions
• Lower-limb reductions occur in about 2 per 10,000 births
• A few children are affected in the upper and lower extremities

Hurdles for Limb-Reduced Children

Children may face:

• Late maturation of motor skills
• Need for personal assistance with daily self-care
• Physical disability from sports or everyday activities
• Social and psychophysical difficulties due to appearance

Limb Reduction Defects Treatment

Objectives of treatment: To improve the function and appearance of limbs. Options include:

• Artificial limbs (prostheses)
• Orthotics (splints and stints)
• Reconstructive surgery
• Rehabilitation therapies

Unknowns and Ongoing Research

Why Do Limb Reduction Defects Happen?

The specific cause has not been identified, but certain factors may be involved:

• Chemical, infection, or medication exposure of the mother during pregnancy
• Maternal tobacco smoking or alcohol use in pregnancy
• Folic acid supplementation non-use before and during early pregnancy

Can They Be Prevented?

Not completely, but you can lower the risks by:

• Daily use of prenatal vitamins containing 400 mcg folic acid
• Preventing alcohol, tobacco, and unsafe medications during pregnancy
• Routine prenatal care and screening

Final Thoughts

Adams-Oliver Syndrome is an uncommon but profoundly significant disease. Although there is no cure, when properly diagnosed and treated early, affected children can experience a high quality of life. Most children who have limb reduction or other abnormalities can lead long, fulfilling lives with the proper treatment and guidance.

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