Table 1

Ehlers–Danlos syndrome classification

Villefranche classificationInheritance patternMolecular classification
ClassicalAutosomal dominantCOL5A1, COL5A2
HypermobileAutosomal dominantUnknown
VascularAutosomal dominantCOL3A1
KyphoscolioticAutosomal recessiveLysyl hydroxylase 1 (PLOD1)
ArthrochalasicAutosomal dominantTargeted COL1A1,COL1A2
DermatosparacticAutosomal recessiveProcollagen N-proteinase (ADAMTS2)
Subtype identified after VillefrancheInheritance patternMolecular classification
Tenascin-X deficientAutosomal recessiveTNXB
Ehlers–Danlos syndrome with scoliosis, myopathy, hearing impairmentAutosomal recessiveFKBP14
Musculocontractural Ehlers–Danlos syndromeAutosomal recessiveCHST14