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.
, at least 44 individuals with the condition had been identified and studied. Mutations in "CDK13" were first identified as pathogenic in a 2016 cohort study, and the disorder was first outlined by Bostwick et al. in 2017, who also established the name CHDFIDD.
Q3454555
autosomal dominant
Concept
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congenital heart defects
Concept
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low muscle tone
Concept
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gastrointestinal dysmotility
Concept
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widely-spaced eyes
Concept
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low-set ears
UNK
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congenital spinal abnormalities
Concept
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hearing loss
Concept
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seizures
Concept
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CDK13
MISC
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gene
Concept
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protein
Concept
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Cyclin-dependent kinases
Concept
Q58321
protein kinases
MISC
Q177900
DNA transcription
Concept
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cell differentiation
Concept
Q26972
expression
Concept
Q1429522
Medication
Concept
Q1495687
gastrostomy
Concept
Q781083
assistive communication devices
Concept
Q69642903
CDK13-related disorder
Concept
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subclass of
genetic association
instance of
encodes