Living with Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
A very rare syndrome present from birth that affects the eyes, heart, bones, and muscles.
Understanding Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
It was reported in children of parents who were related to each other. Eye differences can include missing eyeballs (anophthalmia), enlarged corneas, and a missing iris. Heart valve problems, clubfoot, and bent fingers can also occur. GARD notes there have been no further descriptions in the medical literature since 1992.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing eyeballs (anophthalmia)
- Missing iris (aniridia)
- Enlarged cornea (megalocornea)
- Nearsightedness (myopia)
- Clubfoot
- Heart or blood vessel differences
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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 rare disease patient organizations for support
- 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. It is thought to be autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome; anophthalmia megalocornea cardiopathy skeletal anomalies; cassia stocco dos santos syndrome
Patient organizations
Rare-disease groups that can help
- 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 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome.
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