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Shprintzen Golberg craniosynostosis MeSH Supplementary Concept Data 2024

MeSH Supplementary
Shprintzen Golberg craniosynostosis
Unique ID
RDF Unique Identifier
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
Registry Number
Heading Mapped to
*Marfan Syndrome
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
Revision Date
Shprintzen Golberg craniosynostosis Preferred
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