Paula and Bobby
Parents of Lillie
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.
What is FDNA Telehealth?
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