Shprintzen-Goldberg craniosynostosis syndrome

Common Name(s)

Shprintzen-Goldberg craniosynostosis syndrome, Shprintzen-Goldberg syndrome

Shprintzen-Goldberg syndrome is a disorder comprising 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 hypotonia, developmental delay, and inguinal or umbilical hernia; the most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint hypermobility (summary by {11:Robinson et al., 2005}). There is considerable phenotypic overlap between SGS and Marfan syndrome (MFS; {154700}) and Loeys-Dietz syndrome (LDS; see {609192}): SGS includes virtually all of the craniofacial, skeletal, skin, and cardiovascular manifestations of MFS and LDS, with the additional findings of mental retardation and severe skeletal muscle hypotonia (summary by {4:Doyle et al., 2012}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Shprintzen-Goldberg craniosynostosis syndrome" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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