Living with MORM syndrome
A rare genetic syndrome with language delay, intellectual disability, weight gain around the middle, and an inherited eye condition.
Understanding MORM syndrome
The name comes from mental retardation (an older term for intellectual disability), obesity, retinal dystrophy, and micropenis. People have language delay, mild to moderate intellectual disability, weight gain around the trunk, and a retinal condition present from birth that does not worsen. It causes poor night vision and reduced sharpness of vision. Cataracts may occur in the second or third decade of life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language development
- Intellectual disability
- Weight gain around the trunk (truncal obesity)
- Breakdown of light-sensing cells in the retina
- Night blindness and reduced vision
- Small penis (micropenis)
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.
- 3Consider genetic testing
Changes in INPP5E are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
This syndrome is caused by changes in the INPP5E gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome; intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome; mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome; mental retardation, truncal obesity, retinal dystrophy, and micropenis; morm (mental retardation, truncal obesity, retinal dystrophy, micropenis) 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 MORM syndrome.
Explore research for MORM syndrome
Explore actively recruiting MORM syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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