Living with Adams-Oliver syndrome
A rare condition present at birth with patches of missing skin, usually on the scalp, and differences in the hands and feet.
Understanding Adams-Oliver syndrome
Most people have aplasia cutis congenita, which means areas of missing skin, usually on the top of the head. The hands and feet are often affected, such as fused, short, or missing fingers or toes and abnormal nails. Some people have blood vessel problems, heart defects, or neurological problems such as developmental delay.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Patches of missing skin at birth (aplasia cutis congenita)
- Short or missing fingers or toes
- Fused fingers (syndactyly)
- Net-like pattern on the skin (cutis marmorata)
- Poor weight gain (failure to thrive)
- Eye problems, such as cataract or small eyes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with FACES: The National Craniofacial Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause this condition. It can be inherited in an autosomal dominant way (one changed copy from a parent) or an autosomal recessive way (a changed copy from each parent).
Also known as: adams oliver syndrome; aos; congenital absence of skin on scalp with limb-reduction anomaly; congenital scalp defects with distal limb anomalies; congenital scalp defects with distal limb reduction anomalies; limb, scalp and skull defects
Patient organizations
- FACES: The National Craniofacial AssociationAdams-Oliver syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Adams-Oliver syndrome.
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