📂 Diseases
spondyloepimetaphyseal dysplasia, Strudwick type — Definition
Strudwick tipi spondiloepimetafizyel displazi / spondyloepimetaphyseal dysplasia, Strudwick type
It is a rare genetic skeleton dysplasia. Collagen type II appears as a result of mutations in the COL2A1 gene encoded. The disease is characterized by abnormalities in three regions, including spine (spondilo), long bone endings (epifiz) and growth plates (methafiz). Clinical findings include dwarfism, skolyoz, chest cage deformities and joint problems.
Frequently Asked Questions
❓ What is Strudwick tipi spondiloepimetafizyel displazi?
Strudwick tipi spondiloepimetafizyel displazi; it is a rare genetic skeleton dysplasia. Collagen type II appears as a result of mutations in the COL2A1 gene encoded. The disease is characterized by abnormalities in three regions, including spine (spondilo), long bone endings (epifiz) and growth plates (methafiz). Clinical findings include dwarfism, skolyoz, chest cage deformities and joint problems.
❓ What is spondyloepimetaphyseal dysplasia, Strudwick type in Turkish?
The Turkish equivalent of "spondyloepimetaphyseal dysplasia, Strudwick type" is Strudwick tipi spondiloepimetafizyel displazi.
❓ Which medical field is Strudwick tipi spondiloepimetafizyel displazi related to?
This term belongs to the Diseases category.