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Shprintzen-Goldberg syndrome

Synonym(s) Marfanoid craniosynostosis syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Multigenic/multifactorial
or Not applicable
Age of onset Infancy
  • Q87.8
  • C1321551
  • C537328
MedDRA -


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.

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Anesthesia guidelines
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Clinical genetics review
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