Type I comprising the milder manifestations. Type II representing severe forms, consisting of male pseudohermaphroditism, polydactyly with frequent early lethality. The designation RSH represents initials of the surnames of the first three patients in whom the syndrome was first observed.
Capillary hemangiomas are common.
Wide bridge of the nose, epicanthal folds, and anteverted nares. Genital anomalies of variable severity may include hypospadias, cryptorchidism, and small penis. Transmitted as an autosomal recessive trait. The syndrome may occur in 46,XY infants with female external genitalia.