Lujan-Fryns syndrome

What is Lujan-Fryns syndrome?

Lujan syndrome is a rare genetic disease which occurs mainly in males. Its defining facial features are similar to those of Marfan syndrome, including a tall and thin stature.

The other main symptoms of the syndrome include intellectual disability and behavioral issues.

What gene changes cause Lujan-Fryns syndrome?

As an X-linked disorder, mainly males are affected by the syndrome.

Mutations in the MED12 gene are responsible for the syndrome.


Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.


With syndromes inherited in an X-linked dominant pattern, a mutation in just one of the copies of the gene, causes the syndrome. This can be in one of the female X chromosomes, and in the one X chromosomes males have. Males tend to have more severe symptoms than females.

What are the main symptoms of Lujan-Fryns syndrome?

Mild to moderate intellectual disability is a major symptom of the syndrome. Behavioral issues related to the syndrome include hyperactivity, aggression, extreme shyness and social anxiety as well as extreme attention-seeking behaviors. Some affected individuals may also be diagnosed as on the autism spectrum, and issues with communication and interacting with others are common with the syndrome. In severe cases delusions and hallucinations may also be potential symptoms.

Unique facial and physical features of the syndrome are a tall stature, large head, a long face, prominent top of the nose, short philtrum (the space between the nose and upper lip), and a narrow palate, crowded teeth and a small chin.

Low muscle tone is also a common symptom associated with the syndrome.
Other possible symptoms include speech delay, seizures, hyperextensibility of the joints and brain abnormalities.

How does someone get tested for Lujan-Fryns syndrome?

The initial testing for Lujan-Fryns 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.

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."

Image

Paula and Bobby
Parents of Lillie

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

Credibility

Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

Accessibility

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.

Value for
Money

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.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!