Mandibuloacral Dysplasia with Lipodystrophy

What is Mandibuloacral Dysplasia with Lipodystrophy?

This syndrome is considered to be a very rare disease. Some of its main symptoms include an underdeveloped lower jaw and collarbone.

Partial lipodystrophy, when there is a loss of body fat from different parts of the body is also characteristic of the syndrome. This may also cause the presence of symptoms associated with metabolic syndromes.

The syndrome has two types, diagnosed by the gene mutation that causes each one.

What gene changes cause Mandibuloacral Dysplasia with Lipodystrophy?

Type A of the syndrome is caused by changes in the LMNA gene.
Type B of the syndrome is caused by changes in the ZMPSTE24 gene.

There may also be other genes responsible for causing the syndrome that as yet have not been identified.

The syndrome is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Mandibuloacral Dysplasia with Lipodystrophy?

There may be some variation in the symptoms between the different types of the syndrome, but the following symptoms are those that have been found to be common to both.

These shared symptoms include skeletal abnormalities including an underdeveloped jaw and collarbone. Another common skeletal symptom is the loss of bone at the ends of the fingers and toes, making them appear stubby or overly rounded.

A prematurely aged appearance, even in affected children, is also characteristic of the syndrome.

Unique facial features relevant to the syndrome include prominent eyes, pointed nose, small mouth, and a receding chin. Individuals may also have a mottled skin pigmentation or color, thin and sparse hair, loss of eyebrows and other issues affecting the skin. A short stature is also a common feature.

A loss of body fat, or lipodystrophy, is also associated with the syndrome. It usually develops later into childhood and through puberty.

This condition can itself trigger symptoms usually associated with metabolic syndromes- insulin resistance, a thickening of the skin and an increased darkening of the color of the skin, glucose intolerance and diabetes.

How does someone get tested for Mandibuloacral Dysplasia with Lipodystrophy?

The initial testing for Mandibuloacral Dysplasia with Lipodystrophy syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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