Living with Mandibuloacral dysplasia
A rare inherited condition affecting bones, skin color, and body fat, sometimes with early-aging features.
Understanding Mandibuloacral dysplasia
People may grow slowly, and most have a small lower jaw and small collarbones. Fingertips can look rounded from bone loss, and some skin is patchy in color. Some have thin skin, hair loss, or diabetes. Type A (MADA) usually starts in adulthood, while type B (MADB) often starts soon after birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth after birth
- Loss of fat under the skin (lipodystrophy)
- Insulin resistance
- Patchy or darkened skin
- Hair loss
- Crowded or underdeveloped teeth
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 bone and joint specialists, eye disease specialists, genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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 genes (also called variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: craniomandibular dermatodysostosis; familial mandibuloacral dysplasia; mad; mada; mandibuloacral dysostosis; mandibuloacral dysplasia with lipodystrophy
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 Mandibuloacral dysplasia.
Explore research for Mandibuloacral dysplasia
Explore actively recruiting Mandibuloacral dysplasia studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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