Fuhrmann, syndrome

[MIM 228 930]

(Fuhrmann - Rieger - Sousa syndrome,  hypoplasia/aplasia of the fibula syndrome - curvature of the femur - oligodactyly)

Extremely rare. Due to a partial loss of function of the WNT7A gene (3p25). Another mutation in the same gene leads to the Schinzel type phocomelia .

Association of:

-         aplasia or hypoplasia of the fibulae and the ulna with  tibial or radial curvature

-         abnormality of the fingers: poly-, oligo - or syndactyly. hypoplasia of nails

-         curved femurs

-         also frequent: hypoplasia of the pelvis with congenital dislocation of the hip

-         absence or fusion of the bones of the tarsus 

-         aplasia or hypoplasia of the toes


Anesthetic implications: 

difficult peripheral venous access


References : 

-         Woods CG, Stricker S, Seemann P, Stern R, Cox J et al. 
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. 
Am J Hum Genet 2006; 79: 402-8.

-         Manouvrier-Hanu S. 
Malformations syndromiques des membres in 
Progrès en Pédiatrie : syndromes dysmorphiques par Lacombe D et Philip N, Doin 2013, p 201-20


Updated: April 2019