Shprintzen-Goldberg craniosynostosis syndrome
Definition
Shprintzen-Goldberg craniosynostosis syndrome (SGS) is a disorder of the connective tissue, featuring craniosynostosis and marfanoid body type.
Description
SGS, also known as marfanoid craniosynostosis syndrome, is one of a group of disorders characterized by craniosynostosis and marfanoid body type. It is a condition that involves craniofacial, skeletal, and other abnormalities. SGS is caused by genetic mutations (changes affecting the structure and function of the gene) in a gene that contributes to the formation of connective tissue.
Genetic profile
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