Living with Mandibular hypoplasia-deafness-progeroid syndrome
A rare genetic syndrome with hearing loss, loss of body fat, a small jaw, and signs that look like early aging.
Understanding Mandibular hypoplasia-deafness-progeroid syndrome
From childhood, people lack fat under the skin, though fat may build up on the trunk. They have hearing loss from the inner ear, hardened skin (scleroderma), and distinct facial features. Growth delay, stiff joints, hormone problems, and diabetes can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from the inner ear
- Loss of fat tissue (lipodystrophy)
- Small lower jaw (micrognathia)
- Insulin resistance and diabetes
- Stiff joints (contractures)
- Thinning bones (osteoporosis)
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 ear, nose, and throat specialists, genetic specialists, hormone specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in POLD1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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
Changes in the POLD1 gene cause this condition. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough.
Also known as: mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome; mandibular hypoplasia-hearing loss-progeroid syndrome; mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; mdp syndrome; mdpl syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Mandibular hypoplasia-deafness-progeroid syndrome.
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