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Omphalocele syndrome, Shprintzen-Goldberg type

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Neonatal
  • Q79.2
MeSH -
MedDRA -


Disease 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.

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