Mandibuloacral dysplasia

Mandibuloacral dysplasia is a rare genetic disorder where the lower jaw (mandible) and collarbone (clavicle) are not fully developed. Individuals also experience bone loss at the ends of their fingers and toes as well as fat loss from various parts of their body. This disorder is known to be caused by a change (mutation) on either of two different genes in the human body. There are two types of mandibuloacral dysplasia (Types A and B), which is determined based on which gene is mutated. The disorder is autosomal recessive, which means that both parents have to have at least one copy of the mutated gene in order for the child to have a chance of getting the disorder.

The type of disorder (A or B) often predicts when a person will start seeing signs of the disorder. For type A, the age is usually between 4 to 5 years old; whereas, for type B, the age is closer to 2 years old. Signs and symptoms vary from person to person. However, some common symptoms include underdevelopment of the jawbone, bulb-looking fingers and toes, distinct facial features that make an individual look older (along with hair-loss), and sloping shoulders. Individuals may also have a high-pitched voice, a delay in sexual features, and may develop an insulin resistance (the hormone responsible for controlling the amount of sugars in our blood), which could lead to diabetes.

A doctor may identify mandibuloacral dysplasia by looking at an individual's symptoms and their medical history. It is important to know that not every person experiences all the symptoms listed here. Many treatments do exist for those with this disorder including medicines that can be given to combat diabetes. Exercise and keeping a healthy weight are also recommended.

If you have been diagnosed with mandibuloacral dysplasia, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Jun 14, 2018