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Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay

Summary

Congenital cranial dysinnervation disorder with absent corneal reflex and developmental delay (CCDDRD) is an autosomal recessive disorder characterized by abnormal development of the proximal cranial sensory ganglia and nerves, mainly CN V (trigeminal nerve) and CN VIII (vestibulocochlear nerve). Affected individuals present at birth or in early infancy with corneal opacities due to absent blinking. Most patients also have sensorineural deafness associated with hypoplastic or malformed cochlea and hypoplasia or agenesis of CN VIII. Developmental delay with poor speech and autistic behavior are also present. Additional features may include expressionless face, feeding or chewing difficulties due to oromotor dysfunction, and dysmorphic facial features (Dupont et al., 2021; Sheth et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: AKA, CCDDRD, Math4C, NEUROD3, bHLHa6, ngn1, NEUROG1
    Summary: neurogenin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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