Kleefstra syndrome

This code identifies Kleefstra syndrome, a rare genetic disorder characterized by intellectual disability, distinctive facial features, and often a range of other medical and behavioral issues. It results from a microdeletion or mutation on chromosome 9q34.3, affecting the EHMT1 gene.

Use this code when documentation explicitly states a diagnosis of Kleefstra syndrome, typically confirmed by genetic testing. This diagnosis is often made in pediatric patients presenting with global developmental delay, hypotonia, and dysmorphic features. Supporting documentation should include genetic test results or a confirmed clinical diagnosis by a geneticist.

• Ensure genetic testing results or a geneticist's confirmed diagnosis of Kleefstra syndrome are present in the medical record.
• Do not confuse with other intellectual disability syndromes unless Kleefstra syndrome is specifically diagnosed.
• Code any associated manifestations, such as congenital heart defects, epilepsy, or behavioral disorders, separately.