Shprintzen-Goldberg omphalocele syndrome

(redirected from Shpintzen omphalocele syndrome)

Shprintzen-Goldberg omphalocele syndrome

An extremely rare (5 cases in the world literature) autosomal dominant condition (OMIM:182210) characterised by mild facial dysmorphia, omphalocele, scoliosis, learning disabilities, and pharyngeal and laryngeal hypoplasia.