Borjeson-Forssman-Lehmann syndrome (BFLS)

What is Borjeson-Forssman-Lehmann syndrome (BFLS)?

This rare disease is a genetic condition which, due to the way it is inherited, affects mainly males.

There are 40 recorded cases to date but this number is believed to be higher.

The main symptoms of the syndrome include unique facial features, and intellectual disability.

What gene changes cause Borjeson-Forssman-Lehmann syndrome (BFLS)?

Changes to the PHF gene on the X chromosome are responsible for the syndrome. As an x-linked recessive condition, it affects mainly males.

However females have been recorded as presenting with some of the features of the condition, although in general they are just carriers.

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.

What are the main symptoms of Borjeson-Forssman-Lehmann syndrome (BFLS)?

The symptoms may vary widely between individuals, and even within individuals from the same family. There is some evidence to suggest that in some individuals symptoms may become milder with age.

Unique facial features of the syndrome include a coarse face, droopy eyelids, deep set eyes, large and fleshy earlobes. Issues with the optic nerve and connective tissue may cause cataracts and farsightedness in adults with the condition.

Other symptoms of the syndrome include intellectual disability and developmental delay.

Obesity, seizures and the failure of the testes and ovaries to produce hormones are also symptoms. This in turn leads to a short stature.

How does someone get tested for Borjeson-Forssman-Lehmann syndrome (BFLS)?

The initial testing for Borjeson-Forssman-Lehmann 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.

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