Paula and Bobby
Parents of Lillie
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.
What is FDNA Telehealth?
FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.
With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.
Benefits of FDNA Telehealth
Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.
Ease of Use
Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
Accuracy & Precision
Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.
Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.
Privacy & Security
We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.