Living with Mulibrey nanism syndrome
A rare genetic condition with slow growth and differences in the muscles, liver, brain, and eyes, and sometimes the heart lining.
Understanding Mulibrey nanism syndrome
MULIBREY stands for muscle, liver, brain, and eye, and nanism is another word for dwarfism. Signs may include constrictive pericarditis (a stiff heart lining), low birth weight, short stature, severe growth delays, low muscle tone, an enlarged liver, and yellow discoloration of the eyes in infancy. It can appear at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature and slow growth
- Slow growth before birth
- Enlarged liver
- Large head (macrocephaly)
- High-pitched voice
- Reduced tendon reflexes
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 bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in TRIM37 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America and other patient organizations
- 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 condition is caused by changes in the TRIM37 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: mul; mulibrey dwarfism; mulibrey growth disorder; mulibrey nanism; muscle-liver-brain-eye nanism; muscle, liver, brain, eye nanism syndrome
Patient organizations
- Little People of AmericaMulibrey nanism syndrome · United States
- Coalition for Heritable Disorders of Connective TissueMulibrey nanism syndrome · United States
- Human Growth FoundationMulibrey nanism syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Mulibrey nanism syndrome.
Explore research for Mulibrey nanism syndrome
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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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