Deafness as Part of an Hereditary Syndrome

Hereditary Deafness Newsletter

PFAPA syndrome as an hereditary autoinflamatory disorder

Introduction PFAPA syndrome (periodic fever, aphtous stomatitis, pharyngitis, adenitis) is an autoinflammatory disease, for which no genetic marker has been identified yet, and its etiology remains unknown. However, the clinical and biochemical similarities to other autoinflammatory conditions, including Familial Mediterranean Fever (FMF), suggest that a genetic impairment might constitute the ...

Hereditary Deafness Newsletter

Hereditary Deafness Newsletter

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

Harboyan syndrome is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (CHED) accompanied by progressive, postlingual sensorineural hearing loss. To date, 24 cases from 11 families of various origin (Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan, Dominican) have been reported. More than 50% of the reported...