Shprintzen omphalocele syndrome

Other Names: Shprintzen-Goldberg omphalocele syndrome; Omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies; Laryngeal and pharyngeal hypoplasia with omphalocele; Omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis; Omphalocele syndrome, Shprintzen-Goldberg type; Pharynx and larynx hypoplasia with omphalocele

Shprintzen?Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.

NIH genetic and rare disease info

• NIH info on Shprintzen omphalocele syndrome

Shprintzen omphalocele syndrome is a rare disease.