omphalocele syndrome, Shprintzen-Goldberg type

Rare Disease

MONDO:0008425

Also Known As

Shprintzen omphalocele syndromeShprintzen-Goldberg omphalocele syndromelaryngeal and pharyngeal hypoplasia with omphaloceleomphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosisomphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomaliespharynx and larynx hypoplasia with omphalocele

Definition

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.