Overview
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is an extremely rare condition that affects multiple body systems, primarily involving the muscles, liver, and pregnancy-related fluid levels. The name describes its three hallmark features: muscular hypertrophy (abnormally enlarged muscles), hepatomegaly (an enlarged liver), and polyhydramnios (excess amniotic fluid surrounding the baby during pregnancy). This condition is typically identified before or shortly after birth due to these distinctive signs. Babies with this syndrome may appear unusually muscular at birth, and their liver may be noticeably enlarged on physical examination or imaging. The excess amniotic fluid during pregnancy can sometimes lead to premature delivery or complications during labor. Additional features may include other organ abnormalities and developmental concerns, though the full spectrum of the condition is still being understood due to its extreme rarity. Because so few cases have been described in the medical literature, the treatment landscape is largely supportive and symptom-based. There are no specific therapies or cures currently available. Management focuses on monitoring organ function, addressing complications as they arise, and providing supportive care. A team of specialists is typically needed to coordinate care for affected individuals.
Key symptoms:
Abnormally large or bulky muscles at birthEnlarged liverExcess amniotic fluid during pregnancyPremature birthBreathing difficulties at birthFeeding difficulties in newbornsAbnormal muscle tonePossible heart abnormalitiesPossible kidney problemsGrowth abnormalities
Clinical phenotype terms (14)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome.
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Specialists
View all specialists →No specialists are currently listed for Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the current status of my child's liver function, and how often should it be monitored?,Are there any genetic tests that could help identify the exact cause of this condition?,What therapies or interventions can help support my child's development?,What warning signs should I watch for at home that would require emergency care?,Are there any clinical trials or research studies we could participate in?,How will this condition affect my child's growth and development over time?,Should other family members be tested or evaluated?
Common questions about Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
What is Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome?
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is an extremely rare condition that affects multiple body systems, primarily involving the muscles, liver, and pregnancy-related fluid levels. The name describes its three hallmark features: muscular hypertrophy (abnormally enlarged muscles), hepatomegaly (an enlarged liver), and polyhydramnios (excess amniotic fluid surrounding the baby during pregnancy). This condition is typically identified before or shortly after birth due to these distinctive signs. Babies with this syndrome may appear unusually muscular at birth, and their liver
How is Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome inherited?
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome typically begin?
Typical onset of Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is neonatal. Age of onset can vary across affected individuals.