type II collagenopathy
Type II collagenopathies are a group of conditions collectively characterized by abnormalities in synthesis of collagen type II. This usually occurs due to a mutation in the COL2A1 gene.
Entities that fall under this group include:
- achondrogenesis type II
- platyspondylic lethal skeletal dysplasia: Torrance type
- hypochondrogenesis
- Kniest dysplasia / spondyloepiphyseal dysplasia congenita
- spondyloepimetaphyseal dysplasia: Strudwick type
- spondyloperipheral dysplasia
- Stickler syndrome - Stickler arthroophthalmopathy: type I
Siehe auch:
- Kniest-Syndrom
- Stickler-Syndrom
- Spondyloepimetaphysäre Dysplasie Typ Strudwick
- spondyloepiphyseal dysplasia congenita
- hypochondrogenesis
- spondyloperipheral dysplasia
- otospondylomegaepiphyseal dysplasia
- achondrogenesis type 2
- Weissenbacher-Zweymüller syndrome
und weiter:
Assoziationen und Differentialdiagnosen zu type II collagenopathy:
