KBG syndrome [Supplementary Concept]

A hereditary autosomal dominant devleopmental disorder characterized by macrodontia of the upper central INCISORS, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, SEIZURES; and INTELLECTUAL DISABILITY. Mutations in the ANKRD11 gene have been identified. OMIM: 148050

Date introduced: August 25, 2010

MeSH Unique ID: C537015

Heading Mapped to:

• Abnormalities, Multiple
• Bone Diseases, Developmental
• Intellectual Disability
• Tooth Abnormalities
• Facies

Entry Terms:

• Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies