Johnson Munson syndrome

Aphalangy, hemivertebrae and urogenital-intestinal dysgenesis is an extremely rare syndrome, described only in three siblings. It associates hypoplasia or aplasia of phalangies of hands and feet, hemivertebrae and various urogenital and/or intestinal abnormalities. Intrafamilial variability is important as one sister had lethal abnormalities (Potter syndrome and pulmonary hypoplasia) while her affected brother was in good health with normal psychomotor development at 6 month of age. Prognosis seems to depend mainly on the severity of visceral malformations. Etiology and inheritance remain unknown. *Author: Orphanet Editorial Team ( February 2005)*.

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