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Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency

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

Classification level: Subtype of disorder
  • Synonym(s):
    • Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss
    • FKBP14-related EDS
    • FKBP22-deficient EDS
    • Kyphoscoliotic EDS due to FKBP22 deficiency
    • kEDS-FKBP14
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q79.6
  • OMIM: 614557
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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