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.

Abnormality of female external genitalia

An abnormality of the female external genitalia.


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