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Deafness-enamel hypoplasia-nail defects syndrome

Disease definition

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.

ORPHA:3220

Classification level: Disorder
  • Synonym(s):
    • Hearing loss-enamel hypoplasia-nail defects syndrome
    • Heimler syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q82.4
  • ICD-11: LD27.0Y
  • OMIM: 234580  616617
  • UMLS: C1856186
  • MeSH: C535994
  • GARD: 1687
  • MedDRA: -

  A summary on this disease is available in Deutsch (2006) Italiano (2006) Français (2021) Nederlands (2021)

Detailed information

Guidelines

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.