Omphalocele syndrome, Shprintzen-Goldberg type
ShprintzenGoldberg 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Omphalocele syndrome, Shprintzen-Goldberg type?
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