Tags: Disease.
Aphalangy hemivertebrae and urogenital-intestinal dysgenesis is an extremely rare syndrome described only in three siblings. It associates hypoplasia or aplasia of phalanges of hands and feet hemivertebrae and various urogenital and/or intestinal abnormalities. Intrafamilial variability is important as one sister had lethal abnormalities (Potter sequence and pulmonary hypoplasia) while her affected brother was in good health with normal psychomotor development at 6 months of age.