congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

CDK13-related disorder

CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features. Those affected typically have motor and language delays, low muscle tone and gastrointestinal dysmotility. Facial features include a wide nasal bridge, widely-spaced eyes, prominent, low-set ears, a flat nose tip and a small mouth. Less common features include congenital spinal abnormalities, hearing loss or seizures. The syndrome is caused by a mutation in the CDK13 gene, which encodes the protein cyclin-dependent kinase 13. Cyclin-dependent kinases are protein kinases, which are critical for regulating DNA transcription for cell differentiation. CDK13 promotes expression of genes involved in various developmental processes, and these processes are disrupted or not completed when the gene is mutated. The syndrome is diagnosed when genetic testing confirms a mutation in CDK13. Treatment centres around the symptoms. Medication or, in severe cases, gastrostomy can be used for the gastrointestinal dysmotility. Speech therapy as early as possible or assistive communication devices can aid language development. The prognosis is not certain as of yet, due to the lack of known patients, however a few patients in mid-adulthood have been identified. As of January 2019, at least 44 individuals with the condition had been identified and studied. Mutations in CDK13 were first identified as p...