Living with Megalocornea-intellectual disability syndrome
A rare inherited condition with enlarged corneas, low muscle tone, and learning difficulties.
Understanding Megalocornea-intellectual disability syndrome
People may have low muscle tone from birth, delayed development, seizures, and mild facial differences. The symptoms vary widely, even within the same family. It can begin from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged cornea (megalocornea)
- Intellectual disability
- Developmental delay
- Low muscle tone
- Nearsightedness
- Loose joints
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 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
- 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 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
Changes in genes (also called variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: megalocornea intellectual disability syndrome; megalocornea with intellectual disability syndrome; mmr (megalocornea, mental retardation) syndrome; mmr syndrome; neuhauser syndrome; neuhäuser 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 Megalocornea-intellectual disability syndrome.
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