Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing.
Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework.
Kniest dysplasia is a rare condition; the exact incidence is unknown.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Martine Le Merrer is in Paris, France. Le Merrer is rated as a Distinguished expert by MediFind in the treatment of Kniest Dysplasia. She is also highly rated in 42 other conditions, according to our data. Her top areas of expertise are Kniest Dysplasia, Chondrodystrophy, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Spondyloepiphyseal Dysplasia.
Valerie Daire-Cormier is in Paris, France. Daire-Cormier is rated as a Distinguished expert by MediFind in the treatment of Kniest Dysplasia. She is also highly rated in 123 other conditions, according to our data. Her top areas of expertise are Asphyxiating Thoracic Dystrophy, Ellis-Van Creveld Syndrome, Chondrodystrophy, and Geleophysic Dysplasia.
Paul Coucke is in Gent, Belgium. Coucke is rated as a Distinguished expert by MediFind in the treatment of Kniest Dysplasia. He is also highly rated in 25 other conditions, according to our data. His top areas of expertise are Arterial Tortuosity Syndrome, Cutis Laxa, Kniest Dysplasia, and Pseudoxanthoma Elasticum.
Published Date:updated Last, July
Published By: National Institutes of Health