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Shprintzen-Goldberg syndrome

ORPHA2462
Synonym(s) Marfanoid craniosynostosis syndrome
SGS
Prevalence <1 / 1 000 000
Inheritance Multigenic/multifactorial
or Not applicable
or Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
OMIM
UMLS
  • C1321551
MeSH
  • C537328
MedDRA -

Summary

Shprintzen-Goldberg syndrome is an extremely rare disorder (less than 50 cases have been reported to date worldwide) that is usually characterized by a marfanoid habitus, with craniofacial (craniosynostosis, characteristic dysmorphic facial features), skeletal and cardiovascular abnormalities, and learning disabilities. Its occurrence is sporadic, and mutations in the fibrillin-1 gene have been described in some of these patients.


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Detailed information

Anesthesia guidelines
  • EN (2013,pdf)
Clinical genetics review
  • EN (2013)
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