In 1993, Urioste et al. presented three unrelated newborn males with similar phenotypes. Their clinical manifestations included hypertrophied alveolar ridges, redundant nuchal skin, distended abdomen, and cryptorchidism; mullerian duct remnants, lymphangiectasis, and renal anomalies also were later found on autopsy. The three newborns all died at an early age due to hepatic failure. Although some of the characteristics of the newborns could be explained by syndromes such as Hennekam, Noonan, Smith-Lemli-Opitz Syndrome (SLOS), and Gardner-Silengo-Wachtel Syndrome (GSWS), they differed from the mentioned syndromes by the neonatal course and by specific malformations. Thus, they suggested that these newborns had a new multiple congenital anomalies (MCA) syndrome which was later named “Urioste Syndrome.” Since all of the patients were male and one of the cases had a brother with similar anomalies, they suspected that this newly described syndrome is probably an autosomal recessive or an X-linked disorder (Urioste et al. 1993). After this study, van Haelst and colleagues described two siblings with a diagnosis of Urioste syndrome. The first child was a female newborn with protein-losing enteropathy, craniofacial anomalies, and renal defects who died at 1 year of age due to severe complications of the protein-losing enteropathy and respiratory distress. Her brother, however, was a male fetus with similar anomalies identified on prenatal ultrasonography, and was aborted at 20 weeks of age. As the anomalies were observed in both sexes, they suggested an autosomal recessive inheritance for this syndrome (van Haelst et al. 2001). In the same year, in 2001, Bellini et al. described two other newborn brothers with persistence of Müllerian duct derivatives, intestinal lymphangiectasia, hypertrophied alveolar ridges, and early death (Bellini et al. 2001). To the best of our knowledge, no other cases of Urioste syndrome have been reported so far.