“What is Kniest Syndrome?” is a frequent question from parents who received an exoma with this name or talked with a doctor, who is checking if this this the diagnose. Kniest Syndrome is a genetic disorder that impacts the quality of the collagen type 2 (COL2A1). With this defect in the quality of the collagen type 2, the most impacted areas are bones, ears, palate and eyes, which should be monitored during the life.
Synonyms for Kniest Syndrome
According to Johns Hopkins Medicine, the Kniest Syndrome can also be called as:
- Kniest Dysplasia;
- Kniest chondrodystrophy;
- Metatropic dwarfism, type II;
- Metatropic dysplasia, type II;
- Swiss Cheese Cartilage Syndrome.
This article is not a medical article and can not be used as a medical advice.We are just trying to gather information to make your life easier. Please also check our bibliography references.
If you want to know more about Kniest Syndrome, you can check here.
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References:
- https://rarediseases.org/rare-diseases/kniest-dysplasia/#symptoms
- https://www.hopkinsmedicine.org/health/conditions-and-diseases/kneist-syndrome
