Shprintzen Omphalocele Syndrome

In 1979, Shprintzen and Goldberg introduced the Shprintzen omphalocele syndrome as a condition associated with facial dysmorphism, omphalocele, scoliosis, learning difficulties, and hypoplasia in the larynx and pharynx, resulting in esophageal reflux and high-pitched voice (Shprintzen and Goldberg 1979; Zelante et al. 2006). Dysmorphic facies characterized by unusual eyebrow patterns, S-shaped eyelids, downturned oral commissures, bimaxillary protrusion, telecanthus, thin lips, short columella, brachycephaly, plagiocephaly, frontal bossing, micrognathia, and dysplastic low-set ears (Zelante et al. 2006; Strenge et al. 2006). Symptoms such as omphalocele may be present at birth (Zelante et al. 2006). More evidence is required to determine the actual prevalence of this syndrome, as there are few publications on the topic (Shprintzen and Goldberg 1979; Zelante et al. 2006).