Shprintzen-Goldberg syndrome

MONDO:0008426

Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

Also known as: Marfanoid craniosynostosis syndrome, SGS, Shprintzen Goldberg Syndrome, Shprintzen-Goldberg syndrome, Marfanoid disorder with craniosynostosis type 1, Marfanoid disorder with craniosynostosis, type 1, Marfanoid-craniosynostosis syndrome, Shprintzen-Goldberg craniosynostosis syndrome

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