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Adams-Oliver syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Adams-Oliver syndrome

Adams-Oliver syndrome is a rare, congenital condition characterized primarily by skin development abnormalities and limb malformations.

Overview

Adams-Oliver syndrome is a rare condition present at birth. The primary features include an abnormality in skin development known as aplasia cutis congenita and malformations of the limbs. A variety of other features may also occur.

Skin and Limb Features

  • Aplasia cutis congenita: Characterized by localized areas of missing skin, typically on the top of the head (skull vertex). This may be accompanied by underdeveloped bone, scarring, and an absence of hair growth in the affected area.
  • Limb abnormalities: Common issues include abnormal nails, fused fingers or toes (syndactyly), and abnormally short or missing fingers or toes. In some cases, other bones in the hands, feet, or lower limbs are malformed or missing.

Additional Features

  • Vascular and Heart Issues: Some infants have cutis marmorata telangiectatica congenita, a blood vessel disorder causing a reddish or purplish net-like pattern on the skin. Affected individuals may also develop life-threatening high blood pressure between the heart and lungs (pulmonary hypertension) or other heart defects.
  • Neurological Issues: Some individuals experience developmental delay, learning disabilities, or structural brain abnormalities.

Causes

Adams-Oliver syndrome is caused by mutations in the ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, or RBPJ genes. These genes play critical roles in embryonic development. Mutations can impair this tightly controlled process, leading to the condition's signs and symptoms.

Inheritance

  • Autosomal Dominant: When caused by mutations in the ARHGAP31, DLL4, NOTCH1, or RBPJ genes, one copy of the altered gene is sufficient to cause the disorder. Some cases result from new mutations in the gene occurring during the formation of reproductive cells or early embryonic development.
  • Autosomal Recessive: When caused by mutations in the DOCK6 or EOGT genes, both copies of the gene in each cell must have mutations. Parents of an affected individual typically carry one copy of the mutated gene but do not show symptoms.

Frequently Asked Questions

The hallmark skin finding is aplasia cutis congenita, usually a smooth, hairless patch on the scalp that may be a few millimeters to several centimeters in size. Management focuses on protecting the area from infection, keeping it moist with non‑irritating dressings, and monitoring for secondary infection. In most cases the patch heals spontaneously over weeks to months, but larger defects may need surgical closure or skin grafting if they do not close on their own or if they are associated with underlying bone or scalp defects.
subset of patients develop vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, or congenital heart defects. A baseline cardiac evaluation—including echocardiography and, if indicated, cardiac MRI—should be performed in infancy. If any symptoms such as shortness of breath, cyanosis, or unexplained fatigue arise, repeat cardiac imaging and pulmonary function testing are warranted. Regular follow‑ups with a cardiologist familiar with Adams‑Oliver syndrome are recommended.
Limb defects such as syndactyly (fused fingers or toes), missing or shortened digits, or abnormal nails can limit fine motor skills and balance. Early referral to a pediatric orthopedic surgeon and a hand therapist can provide surgical correction, splinting, or adaptive devices. Occupational therapy can help children develop compensatory strategies for tasks like writing, dressing, and playing, improving independence and confidence.
Most cases are inherited in an autosomal dominant pattern, meaning a 50 % chance of passing the mutation to offspring. However, many cases are de novo mutations. Genetic counseling can identify the specific gene mutation in the family, estimate recurrence risk, and discuss options such as prenatal testing, preimplantation genetic diagnosis, or the use of donor gametes. Early genetic testing for at‑risk family members can also guide surveillance for associated complications.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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