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Putting a Spotlight On

Each month The Arc of New Jersey Family Institute spotlights a different developmental disability to help build awareness and educate others about the disability. Learn more below.


What is CDK13 ?

 CDK13 is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features. is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features. 

What are the signs of CDK13?

Patients 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.

 

How is CDK13 diagnosed?

The diagnosis of CDK13 disorder is established in a proband by identification of a heterozygous pathogenic variant in CDK13 by molecular genetic testing.

 

 

What services are available for individuals with CDK13?

 Management of DD/ID is per usual practice with attention to gross and fine motor skills, language and communication skills, and behavioral issues. Some children with feeding difficulties require tube feeding. Structural heart defects are treated in the usual manner by a cardiologist. Seizures are treated in the usual manner with antiepileptic drugs (AEDs).

Surveillance: For infants with feeding difficulties: Assess swallowing, feeding, nutritional status, and weight gain monthly during the first few months of life and then at least annually during childhood. Routine monitoring of developmental progress and educational needs. Annual assessment of behavior to identify new or evolving issues. As indicated by specialists: follow up of structural cardiac defects, seizures, scoliosis, constipation, and renal structural abnormalities.

 

Resources/References:

https://www.ncbi.nlm.nih.gov/books/NBK536784/

https://en.wikipedia.org/wiki/CDK13-related_disorder

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694211/

 

 

 

 

 

 

 

 

 


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