Orphanet: Kyphoscoliotic Ehlers Danlos syndrome due to FKBP22 deficiency
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Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 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 congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.

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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