Genetic Hearing Loss Associated with Craniofacial Abnormalities

It is estimated that hereditary hearing loss accounts for 60% of deafness in the developed countries. About 30% of hereditary hearing impairment is syndromic which involves other presenting abnormalities along with deafness. There are more than 400 syndromes which include various degrees of hearing impairment with different phenotypes. (Barlow Stewart et al., 2007; Berrettini et al., 2008). Abnormalities of different systems or suggestive clinical findings have been associated with syndromic hearing loss. These include craniofacial malformations, dental abnormalities, ocular abnormalities, renal defects, cardiac abnormalities, endocrine dysfunction, neurologic dysfunction, skeletal abnormalities, integumentary abnormalities, metabolic disease, chromosomal abnormalities.