Parents

KAT6B disorders (Genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome) are complex neurodevelopmental disorders characterized by global developmental delay, intellectual disability, speech delay, and dysmorphic facial features. Common health problems are feeding difficulties, congenital heart disease, brain abnormalities, visual impairment and genitourinary anomalies. This condition is the consequence of a single error in one of our genes called KAT6B gene. Most mutations occur spontaneously in the child, meaning that none of the parents carries the mutation. It is therefore unlikely, but not impossible, that multiple affected individuals are present in a single family. The prevalence of KAT6B disorders is not known, but is estimated at fewer than one in a million individuals. To date, approximately 140 individuals with molecularly confirmed KAT6B disorders have been reported in the medical literature.