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Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

Disease definition

A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include skin fragility, atrophic scarring, scleral/ocular fragility/rupture, microcornea, and facial dysmorphology (like low‐set ears, epicanthal folds, down‐slanting palpebral fissures, high palate). Molecular testing is obligatory to confirm the diagnosis.


Classification level: Subtype of disorder
  • 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
  • ICD-11: LD28.1Y
  • OMIM: 225400
  • UMLS: C0268342
  • MeSH: -
  • GARD: 2083
  • MedDRA: -

Detailed information


Disease review articles

Genetic Testing

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