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GTR Home > Conditions/Phenotypes > Shprintzen-Goldberg syndrome

Shprintzen-Goldberg syndrome

Synonyms
Craniosynostosis with arachnodactyly and abdominal hernias; Marfanoid craniosynostosis syndrome; Marfanoid disorder with craniosynostosis type 1; Shprintzen-Goldberg craniosynostosis syndrome; Shprintzen-Goldberg marfanoid syndrome
Modes of inheritance
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
Sporadic (HPO, OMIM)

Summary

Excerpted from the GeneReview: Shprintzen-Goldberg Syndrome
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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Marie T Greally
view full author information

Available tests

81 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (81 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SGS, SKV, SKI
    Summary: SKI proto-oncogene

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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