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Developmental malformations-deafness-dystonia syndrome

Disease definition

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

ORPHA:79107

Classification level: Disorder
  • Synonym(s):
    • Developmental malformations-hearing loss-dystonia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent
  • ICD-10: Q87.8
  • ICD-11: LD2H.Y
  • OMIM: 607371
  • UMLS: C4303590
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

It has been described in two monozygotic twins.

Etiology

The syndrome is caused by a missense point mutation in the gene coding for beta-actin, a nonmuscle actin isoform. Mutations in nonmuscle actin isoforms may be associated with developmental anomalies and neurological disorders such as dystonia.

- Last update: June 2006

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

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.