Borjeson-Forssman-Lehmann Syndrome (BFLS) is an X-linked mental retardation syndrome associated with mutations to PHF6. Some mutations are associated with milder conditions than the classic form.
Gene: PHF6 (PHD finger protein 6)
Location: X-chromosome
Inheritance: X-linked recessive
Patient: male
Features shared with classic form:
(1) obesity
(2) tapered fingers
(3) deep set eyes
(4) large ears with fleshy lobes
(5) coarse facial features
Differing features
(1) normal to tall stature
(2) normal to large head size
(3) less severe cognitive disability
(4) absence of epilepsy
(5) less severe hypogonadism
The diagnosis requires gene sequencing to find the specific gene mutation.
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