Adams-Oliver syndrome: Causes, Symptoms, and Treatment

Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.

What kind of doctor treats Adams-Oliver syndrome?

A geneticist (a doctor who treats inherited conditions) usually leads care for Adams-Oliver syndrome. The care team may include a pediatrician (a children's doctor) and an orthopedic surgeon (a bone doctor). A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.

What is Adams Oliver syndrome?

Adams-Oliver syndrome is a rare condition that is present at birth. It involves changes to the limbs and the scalp. The main feature is an abnormality in skin development called aplasia cutis congenita. That means areas of missing skin. The areas usually occur on the top of the head (the skull vertex).

Doctors group it into six types based on the gene involved. It is a rare genetic disorder, with about one in 225,000 live births affected. It affects males and females in equal numbers.

Symptoms

Scalp defects range from mild to severe. The areas of missing skin often heal without treatment a couple of months after birth. In some cases, the bone under the skin is also underdeveloped. Scarring and no hair growth in the area are common.

Hand and foot problems are also common. They can include:

  • Abnormal nails.
  • Fingers or toes that are fused together (syndactyly).
  • Abnormally short or missing fingers or toes.

Other features can occur in some people. These include a reddish or purplish net-like pattern on the skin (cutis marmorata telangiectatica congenita), heart defects, and high blood pressure in the blood vessels between the heart and the lungs (pulmonary hypertension), which can be life-threatening. Some people have developmental delay or learning disabilities. Signs and symptoms vary widely from person to person.

Causes and who gets it

Adams-Oliver syndrome is caused by changes in genes. The genes include ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, and RBPJ. Genes are the body's instructions for growth. Some people with the condition do not have a change in any of these genes.

The inheritance pattern depends on the gene. For some genes, one copy of the changed gene is enough to cause the condition. This is called autosomal dominant inheritance. For other genes, a child must receive a changed gene from both parents. This is called autosomal recessive inheritance. Sometimes the gene change is new in a family with no history of the condition.

How doctors diagnose it

Doctors diagnose Adams-Oliver syndrome from its signs and from genetic testing. The main signs are areas of missing skin on the scalp and defects of the fingers or toes. If one major sign is present, doctors also look for minor signs. These include the net-like skin pattern, heart defects, and blood vessel problems. Genetic testing can find a change in one of the genes linked to the condition.

Treatment

There is no cure for Adams-Oliver syndrome. However, it can be managed by monitoring and treating the symptoms. Treatment is directed toward the specific symptoms in each person. It may require the coordinated efforts of a team of specialists. Pediatricians, orthopedic and plastic surgeons, cardiologists (heart doctors), ophthalmologists (eye doctors), and physical therapists may be part of the team.

For scalp defects, care may include keeping the area clean, medical dressings, and antibiotics if there is a risk of infection. For larger wounds or missing skull bone, doctors may recommend surgery. Options include skin grafts and bone grafts. For limb differences, physical therapy, surgery, and artificial limbs may help. A complete medical evaluation should look for heart concerns, since heart problems may need surgery. Genetic counseling is recommended for families.

When to see a doctor

Call 911 or go to the emergency room if there is heavy bleeding from the scalp wound, if your child has a seizure, or if your child has trouble breathing, a blue or gray skin color, or faints. Get help right away for signs of infection around the scalp wound. Scalp defects can also be complicated by seizures, high pressure within the skull, or brain fluid leakage. Pulmonary hypertension, high blood pressure in the lung blood vessels, can be life-threatening.

How a direct primary care or concierge doctor fits in

A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. This kind of doctor can watch your child's growth and development over time. They can also coordinate the team of specialists and keep follow-up care on track.

Common questions

Is Adams Oliver syndrome inherited?

It can be. Some forms follow an autosomal dominant pattern, where one copy of the changed gene is enough. Others follow an autosomal recessive pattern, where both gene copies are changed. Sometimes the change is new in a family with no history of the condition.

Will my child need surgery?

Not always. Scalp defects often heal without treatment within the first few months of life. Surgery may be needed for larger wounds or missing skull bone. Limb differences may be helped with physical therapy, surgery, or artificial limbs.

Is there a cure?

There is no cure for Adams-Oliver syndrome. However, it can be managed by monitoring and treating the symptoms.

What should doctors watch for?

A complete medical evaluation should look for heart concerns. Some people develop pulmonary hypertension, which can be life-threatening. Doctors also track skin, limb, brain, and eye health over time.

Sources

  1. MedlinePlus Genetics - Adams-Oliver syndrome
  2. National Organization for Rare Disorders - Adams-Oliver Syndrome

Medical Disclaimer

This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.