| Symbol
| EDS6
|
| Location
| 1p36.22
|
| Name
|
Ehlers-Danlos syndrome, type VI |
| Other name(s)
|
Ehlers-Danlos syndrome, kyphoscoliosis type
Ehlers-Danlos syndrome, oculoscoliotic type
Ehlers-Danlos syndrome, type VIA
NEVO syndrome |
| Corresponding gene
|
PLOD1
|
| Other symbol(s)
| EDSVIA, EDSVI, EDSKSCL1, NVS1
|
| Main clinical features
|
severe scoliosis from an early age, recurrent joint dislocations, stretchable skin, premature rupture of fetal membranes, and floppiness in early life, leading to the diagnosis of amyotonia congenita
generalized joint laxity, severe muscular hypotonia and scoliosis at birth, scleral fragility and rupture of the ocular globe |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| connective tissue |
|
| eye |
| Type
| disease
|