Borjeson-Forssman-Lehmann Syndrome is an X-linked mental retardation syndrome associated with mutations to PHF6.

Gene: PHF6 (PHD finger protein 6)

Location: X-chromosome


Inheritance: X-linked recessive


The classic patient is male.


Clinical findings:

(1) short stature

(2) cognitive disability (mental retardation)

(3) epilepsy

(4) hypogonadism secondary to gonadotropin deficiency

(5) variable deficiency in other pituitary hormones (GH, TSH, ACTH)

(6) hypometabolism

(7) obesity

(8) gynecomastia

(9) tapered fingers

(10) broad feet with short toes

(11) hypotonia

(12) poor feeding


Facial features:

(1) microcephaly

(2) swelling of subcutaneous tissue of the face

(3) narrow palpebral fissures

(4) large ears with fleshy lobes

(5) deep set eyes

(6) coarse facial features

To read more or access our algorithms and calculators, please log in or register.