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
