Simpson-Golabi-Behmel syndrome [Supplementary Concept]
A congenital X-linked recessive form of gigantism. It is also characterized by coarse FACIES, congenital heart defects, and other congenital abnormalities. It is phenotypically similar to BECKWITH-WIEDEMANN SYNDROME (OMIM: 130650). Mutations in the GPC3 gene have been identified. OMIM: 312870
Date introduced: August 25, 2010
MeSH Unique ID: C537340
Heading Mapped to:
Entry Terms:
- Simpson Syndrome
- SGBS1
- Simpson dysmorphia syndrome
- Bulldog syndrome
- Golabi-Rosen syndrome
- Dysplasia gigantism syndrome, X-linked
- Simpson-Golabi-Behmel Syndrome, Type 1
- Simpson Dysplasia Syndrome
- Mental Retardation-Overgrowth Syndrome