It is feasible that the major title of the record Kniest Dysplasia is not the name you anticipated. Happy examine the words detailing to locate the alternating name(s) and also condition class(s) covered by this record.
- Swiss Cheese Cartilage Syndrome
- Kniest Syndrome
- Metatropic dysplasia, kind II
- Metatropic dwarfism, kind II
- Kniest chondrodystrophy
Kniest dysplasia is among a number of types of dwarfism that is dued to a modification (anomaly) in a genetics referred to as COL2A1. This genetics is associated with the manufacturing of a certain healthy protein that creates kind 2 collagen, which is important for the typical advancement of bones and also various other connective cells. Modifications in the structure of kind 2 collagen bring about unusual skeletal development as well as, hence, to a selection of dwarfing problems referred to as skeletal dysplasias.
A few of the symptoms and signs of Kniest dysplasia, such as brief stature, bigger knees, and also cleft taste, are normally existing at birth. Various other features could not stand for 2 or 3 years.