Shprintzen Golberg craniosynostosis [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C537328
Heading Mapped to:
Entry Terms:
- Craniosynostosis and Marfanoid disorder, type 1
- Marfanoid craniosynostosis syndrome
- Marfanoid-Craniosynostosis Syndrome
- Shprintzen-Goldberg Craniosynostosis Syndrome
- Marfanoid Disorder With Craniosynostosis, Type I
- Shprintzen-Goldberg Syndrome
- Shprintzen Golberg craniosynostosis syndrome
- Craniosynostosis with arachnodactyly and abdominal hernias