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Omphalocele syndrome, Shprintzen-Goldberg type

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.

ORPHA:3164

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q79.2
  • OMIM: 182210
  • UMLS: C1866958
  • MeSH: -
  • GARD: 9850
  • MedDRA: -
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