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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 -


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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