Hereditary congenital facial paresis

Definition:

Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial anomalies. Genetic heterogeneity for this disorder has been suggested. The only known causative gene for HCFP is HOXB1.

References:

[1]. Caroline B Michielse, et al. Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes. Eur J Hum Genet. 2006 Dec;14(12):1306-12. [Content Brief]

[2]. Markus Vogel, et al. Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis. Am J Med Genet A. 2016 Jul;170(7):1813-9. [Content Brief]

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