Short answer · Medically reviewed summary · Last updated: 2023-07-13

Mandibuloacral Dysplasia (MAD) is a rare genetic disorder that affects various body systems. It is characterized by skeletal abnormalities, skin changes, and metabolic complications.

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What is the prevalence of Mandibuloacral Dysplasia?

Prevalence of Mandibuloacral Dysplasia: how many people are affected worldwide, differences by sex and region, with sources.

Prevalence of Mandibuloacral Dysplasia

Mandibuloacral Dysplasia (MAD) is a rare genetic disorder that affects various body systems. It is characterized by skeletal abnormalities, skin changes, and metabolic complications. The prevalence of MAD is extremely low, making it a rare condition.


Due to its rarity, there is limited data available on the exact prevalence of MAD in the general population. However, it is estimated to affect less than 1 in 1,000,000 individuals worldwide. The disorder is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected.


MAD primarily affects the development of bones and connective tissues, leading to characteristic facial features, joint abnormalities, and short stature. Additionally, individuals with MAD may experience skin changes such as thinning, loss of fat tissue, and abnormal pigmentation. Metabolic complications, including insulin resistance and diabetes, can also occur.


While MAD is a rare condition, it is important for healthcare professionals to be aware of its symptoms and complications to provide appropriate care and support for affected individuals and their families.


Author: DiseaseMaps Editorial Team
Reviewed against authoritative medical sources (NIH GARD, Orphanet, OMIM)
Last updated: 2023-07-13
Medical disclaimer: This information does not substitute professional medical advice. Always consult your doctor before making health decisions.
Source: DiseaseMaps.org
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