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Omphalocele syndrome, Shprintzen-Goldberg type

ORPHA:3164· ICD-10 Q79.2

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.

Prevalence
<1 / 1 000 000
Age of onset
Neonatal