Overview
Moynahan syndrome, also known as multiple symmetric lipomatosis with congenital ectodermal dysplasia, is an extremely rare genetic condition that affects multiple body systems. It was first described by Dr. Moynahan and is characterized by a combination of features including multiple fatty lumps (lipomas) under the skin, sparse or absent hair (alopecia), intellectual disability, seizures (epilepsy), and short stature. Some patients also show skin abnormalities and underdeveloped sexual characteristics (hypogonadism). The condition typically becomes apparent in early childhood when parents may notice delayed development, unusual skin findings, and the gradual appearance of fatty growths beneath the skin. Seizures may also develop during childhood and can vary in severity. Because Moynahan syndrome is so rare, there is no specific cure or targeted treatment available. Management focuses on treating individual symptoms. Seizures are managed with anti-epileptic medications, and developmental delays are addressed through early intervention programs including speech therapy, occupational therapy, and special education support. Surgical removal of lipomas may be considered if they cause discomfort or functional problems. Regular follow-up with a team of specialists is important to monitor and address the various aspects of this condition as the child grows.
Key symptoms:
Multiple fatty lumps under the skin (lipomas)Sparse or absent hairIntellectual disabilitySeizures or epilepsyShort statureUnderdeveloped sexual characteristicsSkin abnormalitiesDelayed developmentSmall head size (microcephaly)Abnormal teeth or dental problemsPoor muscle tone
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Moynahan syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Moynahan syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Moynahan 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 Moynahan syndrome.
Community
No community posts yet. Be the first to share your experience with Moynahan syndrome.
Start the conversation →Latest news about Moynahan syndrome
No recent news articles for Moynahan syndrome.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 type of seizures does my child have, and what is the best medication to control them?,Should we pursue genetic testing such as whole exome sequencing to look for the underlying cause?,What developmental therapies and early intervention services do you recommend?,How should we monitor growth and sexual development over time?,Are there any clinical trials or research studies we could participate in?,What should we do if a seizure lasts longer than usual?,Will the lipomas continue to grow, and when should we consider surgical removal?
Common questions about Moynahan syndrome
What is Moynahan syndrome?
Moynahan syndrome, also known as multiple symmetric lipomatosis with congenital ectodermal dysplasia, is an extremely rare genetic condition that affects multiple body systems. It was first described by Dr. Moynahan and is characterized by a combination of features including multiple fatty lumps (lipomas) under the skin, sparse or absent hair (alopecia), intellectual disability, seizures (epilepsy), and short stature. Some patients also show skin abnormalities and underdeveloped sexual characteristics (hypogonadism). The condition typically becomes apparent in early childhood when parents may
How is Moynahan syndrome inherited?
Moynahan syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Moynahan syndrome typically begin?
Typical onset of Moynahan syndrome is childhood. Age of onset can vary across affected individuals.