x

Search for a rare disease

* (*) mandatory field

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

Ehlers-Danlos syndrome, fibronectinemic type

Disease definition

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.

ORPHA:75501

  • Synonym(s):
    • EDS X
    • Ehlers-Danlos syndrome type 10
    • Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality
    • Ehlers-Danlos syndrome, fibronectin-deficient
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: Q79.6
  • OMIM: 225310
  • UMLS: C1857038
  • MeSH: -
  • GARD: 8508
  • MedDRA: -

Detailed information

Article for general public

Professionals

Additional information

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.