Report of an Indian Family with Heimler’s Syndrome in 2007 as Fifth Case in World Literature: Augmenting the Clinical and Genetic Spectrum

The present study reports, an Indian family with Heimler’s syndrome in 2007 as fifth case in world literature. Ectodermal dysplasia is a term used to describe a number of conditions that are present at or shortly after birth in which two or more of the bodies ectodermal structures (example: hair, teeth, nails, sweat glands) fail to develop or grow properly. Hearing loss due to genetic causes has a reported prevalence of 1 in 1000 births Among these 15- 30% are associated with other abnormalities, although a small number are associated with oro dental disorders. Thirty percent (30%) of all genetic reasons are related to syndromic hearing loss. More than 500 disorders have been linked to deafness. We reported a pair of siblings along with their father who exhibited. findings similar to those described in Heimler’s syndrome namely sensorineural hearing loss, amelogenesis imperfecta and nail abnormalities. Our findings support the theory of autosomal dominant inheritance. To our knowledge, there had been only four case reports of Heimler’s syndrome from 1991 to 2007. Our report of an Indian family with Heimler’s syndrome was the 5th case in World literature. Next-generation sequencing is important for the diagnosis of Heimler’s Syndrome in order to expand the clinical and genetic spectrum, as this provides additional insights into genotype–phenotype correlations, which is vital for accurate clinical practice, genetic counseling, and pathogenetic studies.