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Heritable Connective Tissue Disorders (HCTD)

Often, signs and symptoms of Ehlers-Danlos syndromes (EDS) overlap with other heritable connective tissue disorders (HCTDs). There are over two hundred distinct heritable disorders of the connective tissue, and approximately thirty-six of these disorders have overlapping features, including hypermobility. Many times, one or more heritable connective tissue disorders can be a part of a broader condition, such as an EDS. 

Below are a few examples of other hereditary connective tissue disorders: 

  •   Marfan syndrome
  •   Peyronie’s disease
  •   Osteogenesis imperfecta 
  •   Epidermolysis bullosa
  •   Stickler syndrome 
  •   Alport syndrome 
  •   Congenital contractural arachnodactyly 
  •   Loeys–Dietz syndrome
  •   Williams syndrome
  •   Cutis laxita 
  •   Ectopia lentis 
  •   Familial thoracic aneurysm and dissection 
  •   Fragile-X syndrome 
  •   MACS syndrome (Macrocephaly, Alopecia, Cutis laxa and Scoliosis)
  •   MASS phenotype
  •   Mitral valve prolapse syndrome 

 

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Page Last Updated: February 2020