Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,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.

Aplasia/Hypoplasia of the phalanges of the toes



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