Parents

NEUROG1-related cranial dysinnervation disorder is a genetic disorder. The main features of this disorder include delayed motor development, speech and language delay, hearing loss, lack of facial expression, lack of blinking of eyes and abnormal gait. Laboratory investigations show abnormal findings on CT and MRI of temporal bones.

With only four cases reported globally, NEUROG1-related cranial dysinnervation disorder is an ultra-rare genetic condition.

This disorder is caused by changes in the DNA that affect the NEUROG1 gene. Each individual has two copies of a gene. When changes occur in both copies of the NEUROG1 gene, it results in the disorder. Hence, affected children have both parents with DNA changes in only one of the two copies of the gene and are called as healthy carriers.