Learn About Kniest Dysplasia
Kniest dysplasia is a skeletal disorder that is characterized by short stature, joint disease, and problems with vision and hearing.
Kniest dysplasia is caused by variants (also called mutations) in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen, which is found 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. Type II collagen is essential for the normal growth and development of bones and other connective tissues.
Kniest dysplasia is a rare condition, but the exact prevalence is unknown.
Kniest dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The majority of cases are the result of a new (de novo) variant in the gene that occurs during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or during early embryonic development. These affected individuals often have no history of the disorder in their family. However, in some cases, a parent has been found to carry the same variant in a small number of their cells, which is known as somatic mosaicism.
Los Angeles Pediatric Orthopaedics
Robert Cho is an Orthopedics provider in Beverly Hills, California. Dr. Cho has been practicing medicine for over 16 years and is rated as an Experienced provider by MediFind in the treatment of Kniest Dysplasia. His top areas of expertise are Scoliosis, Spondylocarpotarsal Synostosis Syndrome, Caudal Regression Syndrome, Kyphosis, and Spinal Fusion. Dr. Cho is currently accepting new patients.
Jeffrey Campbell is a General Surgeon and a Pediatrics provider in Broomall, Pennsylvania. Dr. Campbell is rated as an Advanced provider by MediFind in the treatment of Kniest Dysplasia. His top areas of expertise are Achondroplasia, Increased Head Circumference, Spondyloepiphyseal Dysplasia, Bone Graft, and Adenoidectomy. Dr. Campbell is currently accepting new patients.
Nemours Children’s Health – Wilmington
Robert Heinle is a Pediatrics specialist and a Pediatric Pulmonologist in Wilmington, Delaware. Dr. Heinle is rated as an Advanced provider by MediFind in the treatment of Kniest Dysplasia. His top areas of expertise are Subglottic Stenosis, Duchenne Muscular Dystrophy, Hypochondroplasia, Osteotomy, and Adenoidectomy. Dr. Heinle is currently accepting new patients.
Summary: There are relatively few data available on type II collagen disorders, and evidence is lacking on the disease course in relation to symptoms and development of complications, the level of actual disease burden over time as well as data to support identification of possible risk factors. This study aims to build a natural history data set through collection of a number of clinical, imaging, and lab...
Published Date: December 19, 2024
Published By: National Institutes of Health