Living with Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome
A rare genetic condition with small eyes, weight gain around the torso, learning differences and underdeveloped genitals.
Understanding Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome
Both eyes are small (microphthalmia), usually unevenly, and often one eye has a coloboma, a gap in its tissue. People have weight gain around the torso and borderline to mild intellectual disability. Some also have shaky eye movements, cataracts or developmental delay. Symptoms are seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small eyeballs (microphthalmia)
- Gap at the back of the eye (retinal coloboma)
- Cataract (clouding of the eye lens)
- Involuntary eye movements (nystagmus)
- Obesity
- Intellectual disability and developmental delay
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, genetic specialists and hormone 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); Hormone specialists (endocrinologists)
- 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 cause this condition. It is inherited in an autosomal dominant pattern.
Also known as: colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability 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 Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome.
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