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omphalocele syndrome, Shprintzen-Goldberg type

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0008425:  omphalocele syndrome, Shprintzen-Goldberg type
GARD:0009850: 
MESH:C537329: 
Orphanet:3164: 
SCTID:716230005: 
UMLS:C1866958: