Shprintzen Omphalocele Syndrome

Clinical Features

Shprintzen and Goldberg (1979) described a 'new' autosomal dominant malformation syndrome characterized by mildly dysmorphic facies, omphalocele, scoliosis, learning disabilities, and pharyngeal and laryngeal hypoplasia. A father and 3 daughters were affected; one of the daughters died in infancy, probably of airway narrowing. The father had had omphalocele repair, had a high pitched voice, and by fiberoptic endoscopy was discovered to have severe constriction of the glottic and subglottic airway. The larynx was short in the anteroposterior dimension, the epiglottis was omega-shaped, and the pharyngeal lumen was about half normal in diameter. He had poor muscle tone and had been a poor student. One daughter was noted to have a single umbilical artery and had prolonged respiratory problems in the neonatal period, remaining in intensive hospital care for a month. She repeated the first grade. An unusual eyebrow pattern was described in the father and the 2 living daughters. The older daughter has a full scale IQ was 87. Both daughters had scoliosis. The columella was short, producing flaring of the nostrils. Epicanthus was striking in the daughters. (Shprintzen's name is also associated with the velocardiofacial syndrome (192430), which he first described, and with the Shprintzen-Goldberg craniosynostosis syndrome (182212).)

Zelante et al. (2006) reported a 6-year-old boy born with omphalocele and imperforate anus who developed scoliosis at age 4 and had a facial appearance similar to that of the patients originally described by Shprintzen and Goldberg (1979). The boy also had abnormal esophageal motility, narrow shoulders, webbed neck, and unilateral ectopic testis. Laryngeal hypoplasia was diagnosed at 2 years of age because of a high-pitched voice, but did not cause respiratory problems. Zelante et al. (2006) concluded that this patient represented a second observation of the syndrome described by Shprintzen and Goldberg (1979).