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Shprintzen-Goldberg syndrome

Disease definition

Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

ORPHA:2462

  • Synonym(s):
    • Marfanoid craniosynostosis syndrome
    • SGS
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Multigenic/multifactorial or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 182212
  • UMLS: C1321551
  • MeSH: C537328
  • GARD: 4861
  • MedDRA: -

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