Hand-foot-genital syndrome

Hand-foot-genital syndrome is a rare inherited malformation disorder in which the same developmental error shows up in the limbs and in the urinary and genital tract. The most common limb finding is mild shortening of the thumbs and great toes, caused mainly by a short distal phalanx or first metacarpal or metatarsal, which can impair dexterity and the ability to oppose the thumb. The urogenital findings include abnormal ureters and urethra, incomplete fusion of the Müllerian ducts in females and hypospadias of varying severity in males. Vesicoureteral reflux, recurrent urinary tract infections and chronic pyelonephritis are common, while fertility is normal. It is inherited in an autosomal dominant manner, and HOXA13 is the only gene known to be associated with it. Diagnosis rests on examination, radiographs of the hands and feet, and imaging of the kidneys, bladder and female reproductive tract. Treatment is mostly surgical, such as ureteric reimplantation and correction of bladder outlet abnormalities.