Ehlers–Danlos syndrome classification
Villefranche classification | Inheritance pattern | Molecular classification |
---|---|---|
Classical | Autosomal dominant | COL5A1, COL5A2 |
Hypermobile | Autosomal dominant | Unknown |
Vascular | Autosomal dominant | COL3A1 |
Kyphoscoliotic | Autosomal recessive | Lysyl hydroxylase 1 (PLOD1) |
Arthrochalasic | Autosomal dominant | Targeted COL1A1,COL1A2 |
Dermatosparactic | Autosomal recessive | Procollagen N-proteinase (ADAMTS2) |
Subtype identified after Villefranche | Inheritance pattern | Molecular classification |
Tenascin-X deficient | Autosomal recessive | TNXB |
Ehlers–Danlos syndrome with scoliosis, myopathy, hearing impairment | Autosomal recessive | FKBP14 |
Musculocontractural Ehlers–Danlos syndrome | Autosomal recessive | CHST14 |