Ehlers-Danlos Syndrome, Classic-Like

Alternative Names

  • EDSCLL
  • Ehlers-Danlos Syndrome due to Tenascin-X Deficiency
  • EDS due to TNX Deficiency
  • TNX Deficiency

Associated Genes

Tenascin XB
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

606408

Mode of Inheritance

Autosomal recessive

Gene Map Locus

6p21.33-p21.32

Description

Classic-like Ehlers-Danlos syndrome is a connective tissue disorder characterized by hyperextensible skin, hypermobile joints, and tissue fragility. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
131100.2United Arab EmiratesMaleYesYes Primary hyperparathyroidism; Increased c... NM_001370259.2:c.784-9G>A, NM_000500.9:c.1-?_1488+?del, NM_001365276.2:c.11381-?_11524+?delHeterozygous, HomozygousAutosomal, DominantChen Cardenas et al. 2020
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