KBG syndrome (MIM #148050) is a genetic neurodevelopmental disorder caused by mutations in the ANKRD11 gene, located on chromosome 16.
Main clinical features
The clinical phenotype consists of feeding difficulties, developmental delay or (usually mild) intellectual disability, short stature, delayed bone age, epilepsy, skeletal abnormalities, macrodontia, behavioural abnormalities, hearing loss, and typical facial features.
Prevalence
The exact prevalence is unknown, but the ANKRD11 gene is amongst the most frequently mutated genes in large cohorts of patients with neurodevelopmental disorders.
Inheritance
The disorder is inherited in an autosomal dominant manner. Mutations can occur either de novo or can be inherited from an affected parent.