Kniest DysplasiaSymptoms, Doctors, Treatments, Advances & More
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.
Jefferson Health – Navy Yard
Jungsuk Cho is an Oral and Maxillofacial Surgeon in Philadelphia, Pennsylvania. Dr. Cho is rated as an Advanced provider by MediFind in the treatment of Kniest Dysplasia. Her top areas of expertise are Periodontitis, Kniest Dysplasia, Pyogenic Granuloma, and Cherubism. Dr. Cho is currently accepting new patients.
Orthopaedics - Pcros
Christopher Makarewich, MD is a pediatric orthopaedic surgeon and Instructor in the University of Utah Department of Orthopaedics, seeing patients at Primary Children's Hospital and Shriners Hospital for Children – Salt Lake City.Dr. Makarewich specializes in limb lengthening and reconstruction for limb deformities of any cause, including trauma, infection, congenital differences, and genetic/syndromic disorders. In addition, he also focuses on hip disorders including hip dysplasia, Legg-Calves-Perthes disease, and slipped capital femoral epiphysis, as well as pediatric orthopaedic trauma. He finds the process of restoring a child's function and ability to stay or become active to be incredibly rewarding.Dr. Makarewich graduated cum laude from Colby College in Maine. He received his medical degree with honors from Dartmouth Medical School in New Hampshire where he was elected to the Alpha Omega Alpha honor society and received the Freddie H. Fu, MD Outstanding Student Award in Orthopaedics as well as the Frederick P. Lord Award in Anatomy. He completed his residency in orthopedic surgery at the University of Utah and went on to a pediatric orthopaedic surgery fellowship at the Children's Hospital of Philadelphia. He then continued to further subspecialize in pediatric limb lengthening and reconstructive surgery through a fellowship with the International Center for Limb Lengthening and Reconstruction at the Rubin Institute in Baltimore, Maryland. He is a member of the American Academy of Orthopaedic Surgeons, the Pediatric Orthopedic Society of North America, and the Limb Lengthening and Reconstruction Society.When Dr. Makarewich is not working he can be found spending time with his family and enjoying the outdoors while hiking, skiing, and mountain biking. Dr. Makarewich is rated as an Advanced provider by MediFind in the treatment of Kniest Dysplasia. His top areas of expertise are Knock Knees, Congenital Femoral Deficiency, Hypochondroplasia, Osteotomy, and Tenotomy.
Adventist Health Physicians Network
Frank Huang is an Endocrinologist in Lodi, California. Dr. Huang is rated as a Distinguished provider by MediFind in the treatment of Kniest Dysplasia. His top areas of expertise are CHST3-Related Skeletal Dysplasia, Kniest Dysplasia, Spondyloepiphyseal Dysplasia Congenita, and Spondyloenchondrodysplasia.
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