MeSH Browser

MeSH Supplementary: Shprintzen Golberg craniosynostosis
Unique ID: C537328
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537328
Entry Term(s): Craniosynostosis and Marfanoid disorder, type 1; Craniosynostosis with arachnodactyly and abdominal hernias; Marfanoid Disorder With Craniosynostosis, Type I; Marfanoid craniosynostosis syndrome; Marfanoid-Craniosynostosis Syndrome; Shprintzen Golberg craniosynostosis syndrome; Shprintzen-Goldberg Craniosynostosis Syndrome; Shprintzen-Goldberg Syndrome
Heading Mapped to: *Craniosynostoses; *Marfan Syndrome; *Arachnodactyly
Frequency: 42
Note: An autosomal dominant disorder characterized by craniosynostosis, a marfanoid habitus, and skeletal, neurologic, cardiovascular, and connective tissue anomalies. There appears to be a characteristic FACIES involving HYPERTELORISM, downslanting palpebral fissures, high-arched palate, MICROGNATHIA, and low-set posteriorly rotated ears. Other commonly reported manifestations include MUSCLE HYPOTONIA, developmental delay, and inguinal or umbilical HERNIA; the most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint hypermobility. Mutations in the SKI gene have been identified. OMIM: 182212
Date of Entry: 2010/08/25
Revision Date: 2015/09/27

Shprintzen Golberg craniosynostosis MeSH Supplementary Concept Data 2024