MeSH Browser

MeSH Supplementary: Schinzel-Giedion syndrome
Unique ID: C536632
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536632
Entry Term(s): Schinzel Giedion midface-retraction syndrome; Schinzel Giedion syndrome; Schinzel-Giedion Midface Retraction Syndrome; Schinzel-Giedion Midface-Retraction Syndrome
Registry Number: 0
Heading Mapped to: *Abnormalities, Multiple; *Hand Deformities, Congenital; *Intellectual Disability; *Nails, Malformed; *Craniofacial Abnormalities
Frequency: 21
Note: A congenital syndrome characterized by severe intellectual disability, distinctive facial features (FACIES), and multiple malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects. Affected individuals are also at higher risk for neoplasms, especially NEUROEPITHELIAL TUMORS. It is caused by mutations in the SET binding protein 1 (SETBP1) gene. OMIM: 269150
Date of Entry: 2010/08/25
Revision Date: 2016/09/29

Schinzel-Giedion syndrome MeSH Supplementary Concept Data 2023