Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.

Also known as: Johnson-Munson syndrome, APHALANGY with hemivertebrae, Aphalangy of the hands and feet, hemivertebrae, and visceral malformations, Johnson Munson syndrome

1 clinical trial for this condition and its sub-types, 0 tagged with Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome itself.