CDK13-related disorder

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CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare genetic condition passed down in an autosomal dominant pattern.

What happens
- Most people with this disorder have heart defects present from birth, intellectual disability, and delays in motor and language skills.
- They often have distinctive facial features, low muscle tone, and problems with digestion (gastrointestinal dysmotility).
- Some may have hearing problems, seizures, spinal issues, autism-like symptoms, or other minor anomalies.

Cause
- It is caused by mutations in one copy of the CDK13 gene, which makes a protein important for turning genes on and off during development. A mutation disrupts this process and affects development.

How it is diagnosed
- Suspected from clinical features and confirmed with genetic testing showing a CDK13 mutation. Tests may include whole exome sequencing or gene panel testing, with confirmation by methods such as Sanger sequencing.

How it is treated
- Treatment targets the individual symptoms: monitoring or repairing heart defects if needed, medications to help stomach emptying, and feeding support if necessary (such as a gastrostomy in severe cases). Early speech therapy and assistive communication devices help with language development.

Prognosis
- The long-term outlook is not fully known because many people have been described recently, but some individuals reach adulthood.

Frequency
- It is extremely rare. By 2019, at least 44 individuals had been identified; by 2025, at least about 350 people have been diagnosed.

History
- CDK13 mutations were first linked to the condition in 2016–2017, and the name CHDFIDD was established in 2017.