The association of hydronephrosis due to obstructive uropathy and syndactyly of hands and feet was described in a mother and her two sons, as well as in another unrelated patient. Hands and feet anomalies were either split and/foot or syndactyly, with or without limb deficiency. Hydronephrosis was due in two cases to ureteral atresia and in one case to megaloureter. Other major anomalies were observed like spina bifida aperta (2 cases) or occulta (1 case), or diaphragmatic hernia (2 cases). The transmission pattern suggests autosomal dominant inheritance with variable expressivity.
Last update: October 2004
- Dr Emmanuelle PROUST-LEMOINE