Overview
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome, often called MDPL syndrome, is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: an underdeveloped lower jaw (mandibular hypoplasia), hearing loss (deafness), features that make a person look older than their age (progeroid features), and a loss of body fat under the skin (lipodystrophy). People with MDPL syndrome typically have a distinctive facial appearance with a small jaw, prominent nose, and thin skin that appears aged. The loss of fat tissue, particularly in the arms, legs, and face, can lead to metabolic problems such as insulin resistance and diabetes. Hearing loss is usually sensorineural, meaning it involves the inner ear or hearing nerve, and can range from mild to severe. Other features may include joint stiffness, undescended testes in males, crowded teeth, and a thin body build. Because this condition is so rare, treatment focuses on managing individual symptoms rather than addressing the underlying cause. A team of specialists is usually needed to provide comprehensive care, including endocrinologists for metabolic issues, audiologists for hearing loss, and orthopedic or dental specialists for skeletal concerns. Research is ongoing to better understand this condition and develop targeted therapies.
Key symptoms:
Small or underdeveloped lower jawHearing loss, often in both earsAged or old-looking appearance for one's ageLoss of fat under the skin, especially in arms, legs, and faceInsulin resistance or diabetesJoint stiffness or limited joint movementThin, tight skinCrowded or misaligned teethProminent or beaked noseThin body build with little muscle massUndescended testes in malesShort statureProminent eyesBird-like facial appearanceHigh-pitched voice
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Mandibular hypoplasia-deafness-progeroid features-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 Mandibular hypoplasia-deafness-progeroid features-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 specific POLD1 mutation does my child or I have, and what does it mean for the disease course?,How often should hearing be tested, and what are the best options for managing hearing loss?,What metabolic tests should be done regularly, and how will diabetes be managed if it develops?,Are there any clinical trials or research studies we could participate in?,What specialists should be part of our care team, and how often should we see them?,What can be done to manage joint stiffness and maintain mobility?,Should other family members be tested for the POLD1 gene change?
Common questions about Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
What is Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome?
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome, often called MDPL syndrome, is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: an underdeveloped lower jaw (mandibular hypoplasia), hearing loss (deafness), features that make a person look older than their age (progeroid features), and a loss of body fat under the skin (lipodystrophy). People with MDPL syndrome typically have a distinctive facial appearance with a small jaw, prominent nose, and thin skin that appears aged. The loss of fat tissue, particularly
How is Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome inherited?
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome typically begin?
Typical onset of Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome is childhood. Age of onset can vary across affected individuals.