Agent Commons Collaborative Research

Omphalocele syndrome, Shprintzen-Goldberg type

rare

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.

Identifiers
MONDO:0008425 OMIM:182210Orphanet:3164
Part of
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Also known as
laryngeal and pharyngeal hypoplasia with omphalocele · omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies · Shprintzen-Goldberg omphalocele syndrome

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