Also known as: Kniest syndrome.
What is Kniest dysplasia?
Kniest dysplasia is a genetic condition that leads to skeletal dysplasia with short stature, or dwarfism. Along with shorter bones, babies with Kniest dysplasia may have vision and hearing problems along with other abnormalities.
What causes Kniest dysplasia?
Kniest dysplasia is a genetic disorder with autosomal dominant inheritance associated with mutations in COL2A1 geneCOL2A1 gene COL2A1 gene.
What are the symptoms of Kniest dysplasia?
Short arms and legs, a short, barrel-shaped chest a flat face, vision problems and joint pain are common with Kniest dysplasia. A cleat palate and speech problems can also occur.
What are Kniest dysplasia care options?
Treatment is focused on managing associated symptoms related to Kniest dysplasia, and helping people with the disease live the best life possible. A variety of medications, treatments and surgery may be used.
Reviewed by: Parul B Jayakar, MD
This page was last updated on: 6/22/2018 1:28:38 PM
From the Newsdesk
Nicklaus Children's Hospital will be one of a handful in the country to offer a fast turn-around on genome sequencing that can be a key to saving infants with rare and hard-to-diagnose genetic disorders. As seen on The Miami Herald.
Enzymes are particularly important in the processing of medicines and drugs. They determine how our bodies are going to handle the medicines we take, and if those medicines are going to help us feel better or not. This research study includes testing the status of the CYP2D6 gene in children.