X-linked intellectual disability with marfanoid habitus

X-linked intellectual disability with marfanoid habitus, also known as Lujan-Fryns syndrome, is a genetic condition that affects intellectual development and physical appearance. People with this condition often have a tall, slender body with long arms and legs (a marfanoid habitus) and distinct facial features. Behavioral challenges may also be present. This condition is inherited in an X-linked manner, meaning the gene involved is located on the X chromosome. As a syndromic form of intellectual disability, it involves not only challenges in learning and development but also a range of physical features that contribute to its unique presentation.

Common signs in people with this condition include intellectual disability, distinctive facial features, and a tall, marfanoid body structure. Some individuals may exhibit behavioral differences. The syndrome has also been associated with features such as a hypernasal voice and mild hypotonia, as noted in some of the synonymous descriptions.

This condition is caused by changes in a gene on the X chromosome, with the MED12 gene being associated with the syndrome. It is inherited in an X-linked recessive pattern, which means that the altered gene is passed down on the X chromosome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.