Living with Aplasia cutis-myopia syndrome
A rare syndrome with missing skin patches at birth, strong nearsightedness, and eye movement and retina differences.
Understanding Aplasia cutis-myopia syndrome
Along with patches of missing skin (aplasia cutis congenita), people have high myopia (severe nearsightedness), rapid eye movements present from birth (nystagmus), and cone-rod dysfunction in the retina. It has been described in two siblings, a brother and sister. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing patch of skin at birth
- Severe nearsightedness (high myopia)
- Rapid eye movements from birth (nystagmus)
- Gap in the skull bone
- Unusual retinal color (pigment)
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 eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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
GARD says changes in genes (also called variants) cause this syndrome. Its listing says autosomal recessive, while its summary mentions autosomal dominant transmission.
Also known as: aplasia cutis congenita, high myopia, and cone-rod dysfunction; aplasia cutis myopia; gershoni-baruch-leibo syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Aplasia cutis-myopia syndrome.
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