Living with Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
A rare genetic condition with enlarged muscles and liver, extra fluid in pregnancy, and mild delays in development.
Understanding Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
People have muscles that are larger than usual on both sides of the body, an enlarged liver, and a larger head. There is extra fluid around the baby during pregnancy (polyhydramnios). Motor skills, speech, and language develop a little later than usual. GARD lists onset at birth and in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Larger head size at birth (macrocephaly)
- Extra fluid in the brain (hydrocephalus)
- Muscle weakness (muscular dystrophy)
- Cleft in the lip or mouth (orofacial cleft)
- Eye differences
- Differences in the genital area
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 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); 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 cause this condition. It is autosomal dominant, which means one changed copy of a gene can be enough to cause it.
Also known as: muscular hypertrophy, hepatomegaly, polyhydramnios 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 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome.
Explore research for Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
Explore actively recruiting Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome studies with HealthSpark.
Find actively recruiting studies for Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.