[MIM 212 780]

(Syndactyly type 7)

Rare. Result of a homozygous  or heterozygote complex mutation of the LRP4 gene (11p12-p11.2). 

Clinical presentation:

-         complex syndactyly of both hands: fusion of the fingers and synostosis of the bones of the hand

-         with deformities of the bones of the forearm: short radius and ulna, subluxation of the radial head

-         and similar malformations of the lower limbs: syndactyly of the toes

-         a short stature

Sometimes:

-         vertebral anomalies: hemivertebrae

-         renal abnormalities: renal hypoplasia

-         facial dysmorphism: broad prominent forehead, hypertelorism, arched palate, short nose  with a flat bridge, hypoplasia of the malar bones, short philtrum,  downslanting palpebral fissures

Anesthetic implications: 

check the renal function, difficult peripheral venous access , risk of difficult intubation (malar hypoplasia and high arched palate)

References : 

-         Temtamy SA, Ismail S, Nemat A. 
Mild facial dysmorphism and quasi dominant inheritance in Cenani-Lenz syndrome. 
Clin Dysmorphol 2003 ; 12 : 77-83.

Updated: October 2019