Disorders

Shprintzen-Goldberg Syndrome

Synonym(s): Marfanoid Craniosynostosis Syndrome, Shprintzen-Goldberg Craniosynostosis Syndrome, Shprintzen-Goldberg Marfanoid Syndrome

GeneReview OMIM

Gene	Locus	Protein
SKI	1p36.33	Ski oncogene

Laboratory	Test Method	Prenatal	Carrier *
Connective Tissue Gene Tests - Allentown, PA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.