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Shprintzen-Goldberg Syndrome.


Greally MT.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2006 Jan 13 [updated 2013 Jun 13].



Shprintzen-Goldberg syndrome (SGS) is characterized by: craniosynostosis of the coronal, sagittal, or lambdoid sutures; dolichocephaly; distinctive craniofacial features; skeletal changes (dolichostenomelia, arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hypermobility or contractures and C1/C2 spine malformation); neurologic abnormalities; intellectual disability; and brain anomalies (hydrocephalus, dilatation of the lateral ventricles, and Chiari 1 malformation). Cardiovascular anomalies may include mitral valve prolapse, mitral regurgitation/incompetence, aortic regurgitation, and aortic root dilatation. Minimal subcutaneous fat, abdominal wall defects, myopia, and cryptorchidism in males are also characteristic findings.


The diagnosis of SGS is suspected in individuals with characteristic clinical findings and radiographic findings showing C1-C2 abnormality, wide anterior fontanel, thin ribs, square-shaped vertebral bodies, and osteopenia. SKI is the only gene in which pathogenic variants are known to cause Shprintzen-Goldberg syndrome.


Treatment of manifestations: If aortic dilatation is present, treatment with beta-adrenergic blockers or other medications should be considered in order to reduce hemodynamic stress; surgical intervention for aneurysms may be indicated. Surgical repair of abdominal hernias; standard management of cleft palate and craniosynostosis; surgical fixation of cervical spine instability; routine management for clubfoot deformity; surgical correction for pectus excavatum (rarely indicated); physiotherapy for joint contractures; developmental assessment with placement in special education programs. Prevention of secondary complications: Subacute bacterial endocarditis (SBE) prophylaxis is recommended for dental work or other procedures for individuals with cardiac complications. Surveillance: Management by a cardiologist familiar with this condition is recommended. Agents/circumstances to avoid: Contact sports; use of agents that stimulate the cardiovascular system; activities that may lead to joint pain and/or injury.


Shprintzen-Goldberg syndrome (SGS), resulting from a heterozygous pathogenic variant in SKI, is inherited in an autosomal dominant manner. Most individuals with SGS have unaffected parents suggesting that the causative variant has occurred either as a de novo event in the affected individual or as a result of germline mosaicism in one of the parents. Affected sibs born to unaffected parents support the occurrence of germline mosaicism in some families with SGS.

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