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.
Adventist Health Physicians Network
Frank Huang is an Endocrinologist practicing medicine in Lodi, California. Dr. Huang is rated as a Distinguished provider by MediFind in the treatment of Kniest Dysplasia. He is also highly rated in 25 other conditions, according to our data. His clinical expertise encompasses Dyggve-Melchior-Clausen Syndrome, Otospondylomegaepiphyseal Dysplasia, Spondyloenchondrodysplasia, and CHST3-Related Skeletal Dysplasia.
Twin Cities Spine Center
Joseph Perra is an Orthopedics provider practicing medicine in Minneapolis, Minnesota. He has been practicing medicine for over 25 years. Dr. Perra is rated as an Experienced provider by MediFind in the treatment of Kniest Dysplasia. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Kyphosis, Frontonasal Dysplasia Klippel Feil Syndrome, Spinal Fusion, and Microdiscectomy. Dr. Perra is currently accepting new patients.
Nemours Children's Hospital, Delaware
Both of my parents were in the medical field and strongly influenced the direction of my career. I became a physical therapist, which I enjoyed immensely, but I thought I could make a different contribution to patient care by becoming a physician. In radiology, we are part of the medical team that helps diagnose or exclude an illness and we help to direct the course of our patient’s treatment. Working with children is an amazing experience. Kids are so resilient and bounce back from all types of difficult situations. They each have such a unique perspective and we try our best to tailor our interactive imaging procedures to the child. Sometimes this involves providing anatomy lessons to teen patients, other times it involves just “getting it over with.” We aim to make our imaging procedures as interesting and as comfortable as possible. My areas of interest include: Pediatric Body Imaging Fetal Imaging Child Abuse I try to provide the most accurate information based on our imaging studies to the patient’s medical team so that the child can be treated as quickly as possible. I am fortunate to work with an incredible group of medical practitioners at Nemours/Alfred I. duPont Hospital for Children who share my passion to provide the highest quality medical care to all children. Dr. Harty is rated as an Advanced provider by MediFind in the treatment of Kniest Dysplasia. She is also highly rated in 52 other conditions, according to our data. Her clinical expertise encompasses X-Linked Spondyloepiphyseal Dysplasia Tarda, Weissenbacher-Zweymuller Syndrome, Kniest Dysplasia, and Spondyloepiphyseal Dysplasia. Dr. Harty is board certified in American Board Of Radiology.
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