Deafness-enamel hypoplasia-nail defects syndrome

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Deafness-enamel hypoplasia-nail defects syndrome

Synonyms: Hearing loss-enamel hypoplasia-nail defects syndrome | Heimler syndrome

A rare genetic disease characterized by sensorineural hearing loss abnormalities in the secondary dentition (such as enamel hypoplasia taurodontism or dental overcrowding) and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version February 2024

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Deafness-enamel hypoplasia-nail defects syndrome?

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