Overview
Progeroid and marfanoid aspect-lipodystrophy syndrome (also known as marfanoid-progeroid-lipodystrophy syndrome or sometimes abbreviated as MPL syndrome) is an extremely rare genetic condition that combines features of several different disorders. People with this syndrome have a body shape similar to Marfan syndrome (tall, thin build with long limbs and fingers), signs of premature aging (progeroid features such as thin skin, aged facial appearance, and sparse hair), and lipodystrophy, which means the body has difficulty storing fat properly. This leads to a very lean appearance with little body fat under the skin. The condition is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. This protein is important for connective tissue throughout the body. When it does not work properly, it can affect the skin, skeleton, eyes, heart, and blood vessels. Patients may also develop insulin resistance or diabetes because of the lipodystrophy component. There is currently no cure for this syndrome. Treatment focuses on managing individual symptoms, such as monitoring the heart and blood vessels for complications similar to those seen in Marfan syndrome, managing metabolic problems like diabetes, and addressing skeletal issues. A team of specialists is usually needed to provide comprehensive care. Because the condition is so rare, much of the treatment approach is based on experience with related conditions like Marfan syndrome and other lipodystrophy syndromes.
Key symptoms:
Tall, thin body with long arms and legsLong, slender fingers (arachnodactyly)Aged or old-looking facial appearanceVery little body fat under the skinThin, fragile-looking skinSparse or thin hairSunken cheeks and prominent eyesJoint hypermobility or loose jointsInsulin resistance or diabetesHeart valve problems (such as mitral valve prolapse)Enlarged aorta or risk of aortic problemsNearsightedness or other eye problemsFlat feet or scoliosisMuscle weakness or low muscle massDelayed growth or failure to thrive in infancy
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Progeroid and marfanoid aspect-lipodystrophy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Progeroid and marfanoid aspect-lipodystrophy 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 Progeroid and marfanoid aspect-lipodystrophy syndrome.
Community
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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 is the current size of my (or my child's) aorta, and how often should it be monitored?,Are there any activity restrictions I should follow to protect my heart and blood vessels?,How should we manage the metabolic effects of lipodystrophy, such as insulin resistance?,Would metreleptin or any other specific medication be appropriate for my case?,What specialists should be part of my care team, and how often should I see them?,Are there any clinical trials or research studies I could participate in?,What should I do in case of a cardiovascular emergency, and what are the warning signs?
Common questions about Progeroid and marfanoid aspect-lipodystrophy syndrome
What is Progeroid and marfanoid aspect-lipodystrophy syndrome?
Progeroid and marfanoid aspect-lipodystrophy syndrome (also known as marfanoid-progeroid-lipodystrophy syndrome or sometimes abbreviated as MPL syndrome) is an extremely rare genetic condition that combines features of several different disorders. People with this syndrome have a body shape similar to Marfan syndrome (tall, thin build with long limbs and fingers), signs of premature aging (progeroid features such as thin skin, aged facial appearance, and sparse hair), and lipodystrophy, which means the body has difficulty storing fat properly. This leads to a very lean appearance with little b
How is Progeroid and marfanoid aspect-lipodystrophy syndrome inherited?
Progeroid and marfanoid aspect-lipodystrophy syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Progeroid and marfanoid aspect-lipodystrophy syndrome typically begin?
Typical onset of Progeroid and marfanoid aspect-lipodystrophy syndrome is neonatal. Age of onset can vary across affected individuals.