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GENATLAS PHENOTYPE

last update : 28-11-2012

Symbol	SGS2
Location	1p36.33
Name	Shprintzen-Goldberg syndrome 2 of marfanoid habitus craniosynostosis
Corresponding gene	SKI
Main clinical features	severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis characteristic facies involving hypertelorism, downslanting palpebral fissures, high-arched palate, micrognathia, and low-set posteriorly rotated ears, arachnodactyly, pectus deformity, intellectual disability, aortic aneurysm
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
	multisystem/generalized
	osteo-articular
Type	disease

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