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Deafness - enamel hypoplasia - nail defects

Orpha number ORPHA3220
Synonym(s) Heimler syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10 -
OMIM
UMLS
  • C1856186
MeSH
  • C535994
MedDRA -
SNOMED CT -

Summary

This 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.


Last update: October 2006

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