Schinzel-Giedion syndrome [Supplementary Concept]

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 introduced: August 25, 2010

MeSH Unique ID: C536632

Heading Mapped to:

• Abnormalities, Multiple
• Hand Deformities, Congenital
• Intellectual Disability
• Nails, Malformed
• Craniofacial Abnormalities

Entry Terms:

• Schinzel Giedion midface-retraction syndrome
• Schinzel-Giedion Midface Retraction Syndrome
• Schinzel-Giedion Midface-Retraction Syndrome
• Schinzel Giedion syndrome