Hand-Foot-Genital syndrome

[MIM 140 000]

(Hand-Foot-Uterus syndrome)

Autosomal dominant transmission of a mutation of gene HOXA13 (7p15.2).

Association of the following anomalies:

-        short big toes, short thumbs (abnormalities of distal phalanges and bones of the carpus or tarsus), clinodactyly

-        urogenital: vesico-ureteral reflux

· girls: vaginal septum or bicornuate uterus, epispadias, hypospadias

· boys: hypospadias


Anesthetic implications:

check renal function


References :


Updated: January 2017