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Shprintzen Golberg craniosynostosis [Supplementary Concept]

An autosomal dominant disorder characterized by craniosynostosis, a marfanoid habitus, and skeletal, neurologic, cardiovascular, and connective tissue anomalies. There appears to be a characteristic FACIES involving HYPERTELORISM, downslanting palpebral fissures, high-arched palate, MICROGNATHIA, and low-set posteriorly rotated ears. Other commonly reported manifestations include MUSCLE HYPOTONIA, developmental delay, and inguinal or umbilical HERNIA; the most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint hypermobility. Mutations in the SKI gene have been identified. OMIM: 182212

Date introduced: August 25, 2010

MeSH Unique ID: C537328

Heading Mapped to:

Entry Terms:

  • Craniosynostosis and Marfanoid disorder, type 1
  • Marfanoid craniosynostosis syndrome
  • Marfanoid-Craniosynostosis Syndrome
  • Shprintzen-Goldberg Craniosynostosis Syndrome
  • Marfanoid Disorder With Craniosynostosis, Type I
  • Shprintzen-Goldberg Syndrome
  • Shprintzen Golberg craniosynostosis syndrome
  • Craniosynostosis with arachnodactyly and abdominal hernias

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