Hypertelorism-hypospadias syndrome.
The hypertelorism-hypospadias syndrome has been reported previously in 19 affected male patients. In addition, 21 affected boys in 16 families have been evaluated at our center. Genitourinary anomalies other than hypospadias were observed frequently and included cryptorchidism, vesicoureteral reflux and minor upper urinary tract variations. An increased incidence of other developmental defects involving major organ systems also was observed. Since urologists are among the first physicians to evaluate these children, they should recognize this syndrome as an indication to initiate a thorough multisystem evaluation.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D003456:Cryptorchidism / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007021:Hypospadias / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome; D014718:Vesico-Ureteral Reflux / Q000235:genetics