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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 (Orphanet)
Non-Mendelian inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: Shprintzen-Goldberg Syndrome
Shprintzen-Goldberg syndrome (SGS) is characterized by: delayed motor and cognitive milestones and mild-to-moderate intellectual disability; craniosynostosis of the coronal, sagittal, or lambdoid sutures; distinctive craniofacial features; and musculoskeletal findings including olichostenomelia, arachnodactyly, camptodactyly, pectus excavatum or carinatum, scoliosis, joint hypermobility or contractures, pes planus, foot malposition, and C1-C2 spine malformation. Cardiovascular anomalies may include mitral valve prolapse, secundum atrial septal defect, and aortic root dilatation. Minimal subcutaneous fat, abdominal wall defects, and myopia 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
Chapter Notes
References
Authors:
Marie T Greally
view full author information

Available tests

101 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (101 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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