Borjeson-Forssman-Lehmann syndrome

Borjeson-Forssman-Lehmann syndrome is an X-linked condition that affects multiple parts of the body. People with this condition may experience intellectual deficits along with physical features that set them apart. These can include a distinct facial appearance, truncal obesity, and other bodily features that are considered characteristic of the syndrome. In addition to these clinical findings, the condition is linked with hypogonadism, tapered fingers, and short toes. The syndrome is associated with changes in the PHF6 gene, and it is referenced in key medical resources such as OMIM, Orphanet, and GARD.

Common signs of this condition include intellectual deficits, truncal obesity, and characteristic facial features. Other clinical features often noted are hypogonadism, as well as tapered fingers and short toes.

Borjeson-Forssman-Lehmann syndrome is an X-linked condition. It is caused by changes in the PHF6 gene, which plays a role in the development of the body and brain.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.