Lujan-Fryns syndrome

Common Name(s)

Lujan-Fryns syndrome, X-linked mental retardation with marfanoid habitus syndrome

Lujan-Fryns syndrome, also called X-linked mental retardation with marfanoid habitus syndrome, is a genetic condition that causes significant learning issues (intellectual disabilities), behavioral problems, and abnormal physical features, including a tall, thin stature with long arms and legs. These physical features are seen in another condition, known as Marfan syndrome, which is where the term ‘marfanoid habitus’ comes from. Other features of the condition can include a large head (macrocephaly), a long, thin face, large forehead, pointed nose, small space between the nose and mouth (philtrum), narrow roof of the mouth, crowded teeth, loose joints, and weak muscle tone (hypotonia). Behavioral problems include aggression, attention seeking, and even hallucinations. Some children with this condition have heart defects and abnormalities in the tissue that connects the left and right halves of the brain (corpus callosum). Because of the way it is inherited, this condition usually only affects males.

This condition is caused by a change (mutation) in the MED12 gene and is inherited in an X-linked recessive way. Males have one X chromosome (one copy of the MED12 gene) and females have two X chromosomes (two copies of the MED12 gene). Males who have a mutation in their one copy of the gene will have the condition, while females who have a mutation in only one of the two copies usually do not show signs of the condition.

The diagnosis of Lujan-Fryns syndrome is considered in a tall, thin male who has significant learning issues. Genetic testing is used to confirm the diagnosis. Therapies can help affected children reach their developmental potential. If your child has been diagnosed with this condition, talk with their doctor about all treatment options. Support groups can provide additional information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lujan-Fryns syndrome" for support, advocacy or research.

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Canadian Marfan Association

Increasing awareness, saving lives, and improving the quality of life for patients, their families, and medical professionals affected by Marfan syndrome, genetic aortic disorders, and related connective tissue disorders through national programs of education, support, and research.

Last Updated: 22 Jan 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lujan-Fryns syndrome" for support, advocacy or research.

Logo
Canadian Marfan Association

Increasing awareness, saving lives, and improving the quality of life for patients, their families, and medical professionals affected by Marfan syndrome, genetic aortic disorders, and related connective tissue disorders through national programs of education, support, and research.

http://www.marfan.ca

Last Updated: 22 Jan 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lujan-Fryns syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome.
 

Author(s): Paula Macedo Dieckmann, Lara Carneiro de Lucena, Lívia Almeida Dutra, José Luiz Pedroso, Orlando G P Barsottini

Journal: Arq Neuropsiquiatr. 2013 Jan;71(1):68-9.

 

Last Updated: 22 Jan 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Lujan-Fryns syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
 

Author(s): Griet Van Buggenhout, Jean-Pierre Fryns

Journal:

 

The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The syndrome is associated with mild to moderate mental ...

Last Updated: 10 Aug 2006

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.