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.
MONDO:0003847
hereditary disease
is_a
MONDO:0018234
dysostosis
is_a
MONDO:0019054
congenital limb malformation
is_a
Aphalangy of the hands and feet, hemivertebrae, and visceral malformations
related
Johnson Munson syndrome
related
Johnson-Munson syndrome
exact