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Shprintzen-Goldberg craniosynostosis syndrome

*Gene map locus 15q21.1
Craniosynostosis with arachnodactyly and abdominal hernias
Marfanoid craniosynostosis syndrome
Marfanoid disorder with craniosynostosis, type I
SGS
Shprintzen-Goldberg syndrome
[Clinical features: craniosynostosis; distinctive craniofacial features; skeletal changes (dolichostenomelia, arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hypermobility, or contractures); neurologic abnormalities; mild-to-moderate mental retardation; brain anomalies (hydrocephalus, dilatation of the lateral ventricles, and Chiari 1 malformation)]
[Inheritance: isolated cases]

Marfanoid Habitus, Dysmorphic Features, and Web Neck
Marfanoid Habitus, Dysmorphic Features, and Web Neck
Marfanoid Habitus, Dysmorphic Features, and Web Neck
Medscape
Medscape
Medscape


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Edited by Aldo Campana, March 14, 2010