Could I have Lujan-Fryns syndrome

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In summary, the individual has seen a geneticist and underwent blood tests for Marfan syndrome and homocysteinuria, both of which were negative. There is no known family history of Marfan syndrome. The individual also has an aneurysm in the aorta and was initially diagnosed with Marfan syndrome, but further discussion with a doctor is recommended and no medical advice will be given on this forum.
  • #1
moonman239
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I'm going to see a geneticist this year. The last one ordered blood tests for Marfan syndrome and homocysteinuria, both of which turned out negative.

As far as I know, none of my blood relatives have anything similar to Marfan syndrome.

Edit: I should add that I have an aneurysm in the aorta and my initial diagnosis - prior to the blood tests - was Marfan syndrome.
 
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  • #2
Considering that no one here knows your medical record that would make any insight pretty hard. Further, it would be ethically wrong to advise on medical issues over the internet and its against forum rules!

This is something you need to discuss with your doctors.
 
  • #3

FAQ: Could I have Lujan-Fryns syndrome

What is Lujan-Fryns syndrome?

Lujan-Fryns syndrome, also known as X-linked mental retardation type 30, is a rare genetic disorder that primarily affects males. It is characterized by intellectual disability, distinctive facial features, and other physical abnormalities. It is caused by mutations in the MED12 gene on the X chromosome.

What are the symptoms of Lujan-Fryns syndrome?

The main symptoms of Lujan-Fryns syndrome include intellectual disability, delayed speech and language development, distinctive facial features such as a long face, prominent forehead, and widely spaced eyes, and other physical abnormalities such as joint hypermobility, scoliosis, and flat feet.

How is Lujan-Fryns syndrome diagnosed?

Lujan-Fryns syndrome is diagnosed through a combination of clinical evaluation and genetic testing. A doctor will typically look for the characteristic symptoms and physical features of the syndrome, and may order genetic testing to confirm a diagnosis.

Is there a cure for Lujan-Fryns syndrome?

Unfortunately, there is currently no cure for Lujan-Fryns syndrome. Treatment options are focused on managing the symptoms and may include speech therapy, physical therapy, and educational support for individuals with intellectual disability. Genetic counseling may also be recommended for families with a history of the syndrome.

Is Lujan-Fryns syndrome hereditary?

Lujan-Fryns syndrome is considered to be an X-linked genetic disorder, meaning it is inherited through the X chromosome. As a result, it primarily affects males, while females may be carriers of the gene mutation. It is important for families with a history of Lujan-Fryns syndrome to seek genetic counseling before planning for children.

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