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.

Facial features include a wide nasal bridge, widely-spaced eyes, prominent, low-set ears, a flat nose tip and a small mouth.

[3] Mutations in CDK13 were first identified as pathogenic in a 2016 cohort study,[3][8] and the disorder was first outlined by Bostwick et al. in 2017, who also established the name CHDFIDD.

[2][3][4] Those with the disorder typically have a characteristic facial appearance which includes a wide nasal bridge, widely-spaced eyes, upslanted eyelids, epicanthic folds, high-arched eyebrows, prominent, low-set ears, a flat nose tip and a small mouth with a small upper lip.

[2][3][4] Affected individuals tend to have dysautonomic symptoms of gastrointestinal dysmotility, which can include gastroesophageal reflux, constipation and trouble swallowing.

A mutation in one of the two copies of these genes results in some proteins not being formed correctly and therefore some developmental processes being disrupted or not completed.

[3] Specifically, CDK13 appears to phosphorylate RNA polymerase II and enable it to carry out transcription of genes on DNA.

It appears to largely do this when RNA polymerase II is transcribing certain genes involved in promoting cell development.

Atrial or ventricular septal defects are usually treated with observation but can be surgically corrected in severe cases.

Beginning with Bostwick et al.'s report in 2017, at least 44 individuals with the condition have been identified and studied as of January 2019[update].