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Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

Disease definition

Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

ORPHA:1900

  • Synonym(s):
    • Cutis hyperelastica
    • EDS VIA
    • Ehlers-Danlos syndrome type 6A
    • Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency
    • Lysyl hydroxylase-deficient EDS
    • Ocular-scoliotic EDS
    • kEDS-PLOD1
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q79.6
  • OMIM: 225400
  • UMLS: C0268342
  • MeSH: -
  • GARD: 2083
  • MedDRA: -

Detailed information

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