Living with Mandibuloacral dysplasia with type B lipodystrophy
A rare inherited condition affecting bone growth, skin color, and body fat, often appearing soon after birth.
Understanding Mandibuloacral dysplasia with type B lipodystrophy
People often grow slowly after birth and have a small lower jaw and small collarbones. Fingertip bone loss, delayed closing of skull bones, and stiff joints can occur. In type B, fat loss is widespread, including the face, trunk, and limbs. It often starts soon after birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Widespread loss of body fat (generalized lipodystrophy)
- Small lower jaw (micrognathia)
- Small or missing collarbones
- Bone loss in fingertips
- Insulin resistance
- Patchy darker skin, hair loss
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.
- 3Consider genetic testing
Changes in ZMPSTE24 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
- 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 the ZMPSTE24 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: lipodystrophy, type b, associated with mandibuloacral dysplasia; madb; mandibuloacral dysostosis co-occurrent with type b 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 with type B lipodystrophy.
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