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Ehlers-Danlos syndrome, fibronectinemic type

ORPHA75501
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 Adult
Adolescent
ICD-10
  • Q79.6
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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.


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Detailed information

Anesthesia guidelines
  • EN (2013,pdf)
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