[MIM 301 900]

(syndrome BFSL)

Very rare. X-linked recessive transmission of a mutation of the PHF6 gene (Xq26). 

Form of X-linked obesity with:

-         intellectual deficiency

-        hypotonia in infancy (feeding disorders)

-         truncal obesity from the end of childhood; sometimes short stature

-         hypogonadism with gynecomastia

-         short toes, tapered, malleable and conical fingers

-         a characteristic facies at adolescence: narrow forehead, prominent arch of the eyebrows, sunken eyes, ptosis, large and fleshy ear lobes 

-         sometimes depression and behavioral problems (hypersexuality)

-         sometimes: panhypopituitarism, acute lymphoblastic leukemia, Legg-Calve-Perthes disease, cleft lip or palate, epilepsy, hearing loss.

A few female cases have been reported.

Anesthetic implications: 

obesity and its co-morbidities. difficult venous access, mental retardation; check hormonal functions; sometimes epilepsy.

References : 

-          Birrcll G, Lampe A, Richmond S, Bruce SM et al. 
Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormones deficiency. 
J Ped Endocrinol & Metabol 2003 ; 16 : 1295-1300.

-         Visootsak J, Rosner B, Dykens E, Schwartz C, Hahn K et al. 
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6. 
J Pediatr 2004 ; 145 : 819-25.

Updated: November 2019