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:

• Arrhythmias, Cardiac
• Gigantism
• Heart Defects, Congenital
• Intellectual Disability
• Genetic Diseases, X-Linked

Entry Terms:

• Simpson Syndrome
• SGBS1
• Mental Retardation-Overgrowth Syndrome
• Bulldog syndrome
• Golabi-Rosen syndrome
• Dysplasia gigantism syndrome, X-linked
• Simpson-Golabi-Behmel Syndrome, Type 1
• Simpson Dysplasia Syndrome
• Simpson dysmorphia syndrome