What is Mandibuloacral Dysplasia

Mandibuloacral Dysplasia (MAD) is a rare genetic disorder that affects various parts of the body, including the jaw (mandibulo-) and the extremities (acral). It is characterized by skeletal abnormalities, skin changes, and metabolic complications.

Skeletal abnormalities: Individuals with MAD may have underdeveloped or absent collarbones, thinning of the bones, and joint deformities. These skeletal issues can lead to limited mobility and joint stiffness.

Skin changes: MAD often presents with tight, thin, and wrinkled skin, particularly on the hands and feet. The skin may also show abnormal pigmentation, such as mottled or darkened patches.

Metabolic complications: Some individuals with MAD may experience metabolic abnormalities, including insulin resistance, diabetes, and high blood lipid levels. These complications can increase the risk of cardiovascular diseases.

MAD is caused by mutations in specific genes involved in nuclear envelope function. It is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for their child to be affected.

While there is no cure for MAD, treatment focuses on managing the symptoms and complications. This may involve physical therapy, orthopedic interventions, and regular monitoring of metabolic parameters.