Omphalocele syndrome, Shprintzen-Goldberg type

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Omphalocele syndrome, Shprintzen-Goldberg type

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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Omphalocele syndrome, Shprintzen-Goldberg type?

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