Ehlers-Danlos syndrome

From Libre Pathology
Jump to navigation Jump to search

Ehlers-Danlos syndrome is a syndrome due to a genetic defect.

Features:[1][2]

Subtypes

Classification:[2]

  • There are six subtypes (classical, hypermobility, vascular, kyphoscoliosis, arthrochalasia, dermatosparaxis) - based molecular defects and clinical features.
  • Two of six are autosomal recessive (kyphoscoliosis, dermatosparaxis); the others are autosomal dominant.

Incidence

See also

References

  1. 1.0 1.1 Jarmulowicz M, Phillips WG (January 2001). "Vascular Ehlers-Danlos syndrome undiagnosed during life". J R Soc Med 94 (1): 28–30. PMC 1280067. PMID 11220066. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1280067/pdf/11220066.pdf.
  2. 2.0 2.1 Mitchell, Richard; Kumar, Vinay; Fausto, Nelson; Abbas, Abul K.; Aster, Jon (2011). Pocket Companion to Robbins & Cotran Pathologic Basis of Disease (8th ed.). Elsevier Saunders. pp. 89. ISBN 978-1416054542.