Mandibuloacral Dysplasia (MAD) is a rare genetic disorder that affects various parts of the body, including the jaw (mandibulo) and extremities (acral). It is characterized by a combination of skeletal abnormalities, skin changes, and metabolic disturbances. The symptoms of Mandibuloacral Dysplasia can vary in severity and may present differently in each affected individual.
One of the primary features of Mandibuloacral Dysplasia is skeletal abnormalities. Individuals with this condition may have a small lower jaw (micrognathia) or a receding chin. They may also have a thin collarbone (clavicle) and narrow shoulders. Additionally, affected individuals may experience joint stiffness and limited range of motion in their fingers, elbows, hips, or knees.
Mandibuloacral Dysplasia can cause distinct changes in the skin. One of the most noticeable skin abnormalities is a thinning of the skin on the hands and feet, which can make the veins more visible. The skin on the face may also appear aged and wrinkled, even in childhood. Furthermore, affected individuals may develop small, hard bumps on the skin called calcifications.
Metabolic disturbances are another characteristic of Mandibuloacral Dysplasia. Individuals with this condition may have elevated levels of certain fats (lipids) in their blood, such as cholesterol and triglycerides. These metabolic abnormalities can increase the risk of cardiovascular problems, including heart disease and stroke.
Some individuals with Mandibuloacral Dysplasia may experience growth and developmental delays. They may have a short stature and delayed bone age, meaning their bones may appear younger than their chronological age. Additionally, affected individuals may have delayed or impaired development of motor skills, speech, and language.
In addition to the main features mentioned above, Mandibuloacral Dysplasia can present with other symptoms that vary among individuals. These may include dental abnormalities, such as missing or misshapen teeth, and abnormalities of the nails. Some individuals may also have an increased risk of developing diabetes or insulin resistance.
It is important to note that the symptoms and their severity can vary widely among individuals with Mandibuloacral Dysplasia. Therefore, it is crucial to consult with a healthcare professional for an accurate diagnosis and appropriate management.