Orphanet: Deafness vitiligo achalasia syndrome
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Deafness-vitiligo-achalasia syndrome

Disease definition

Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.

ORPHA:3239

Classification level: Disorder
  • Synonym(s):
    • Hearing loss-vitiligo-achalasia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 221350
  • UMLS: C1857339
  • MeSH: -
  • GARD: 1705
  • MedDRA: -

Summary

Epidemiology

It has been described in a brother and his sister born to first-cousin parents.

Genetic counseling

It is likely to be transmitted as an autosomal recessive trait.

- Last update: February 2007

  A summary on this disease is available in Deutsch (2007) Français (2007) Italiano (2007) Nederlands (2007)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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