x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Classical-like Ehlers-Danlos syndrome type 1

Disease definition

Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

ORPHA:230839

Classification level: Disorder
  • Synonym(s):
    • Classical-like EDS type 1
    • Ehlers-Danlos syndrome due to tenascin-X deficiency
    • clEDS type 1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Childhood, Infancy
  • ICD-10: Q79.6
  • OMIM: 606408
  • UMLS: C1848029
  • MeSH: -
  • GARD: 8507
  • MedDRA: -

Detailed information

Article for general public

Professionals

Additional information

Further information on this disease

Health care resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.