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Ehlers-Danlos syndrome, kyphoscoliotic and deafness type

Disease definition

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

ORPHA:300179

  • Synonym(s):
    • EDS with progressive kyphoscoliosis, myopathy, and deafness
    • EDS with progressive kyphoscoliosis, myopathy, and hearing loss
    • EDS, kyphoscoliotic and hearing loss type
    • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness
    • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
    • Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q79.6
  • OMIM: 614557
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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