Deafness enamel hypoplasia nail defects
Other Names: Bilateral sensorineural hearing loss, enamel hypoplasia and nail defects; Heimler syndrome; Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities
Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.
NIH genetic and rare disease info[edit source]
Deafness enamel hypoplasia nail defects is a rare disease.
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