A random mutation in the gene can cause a person with no family history to also have the condition. Diagnostic techniques
A combination of medical tests are used to diagnosis Kniest dysplasia. These tests can include:
Computer Tomography Scan (CT scan) - This test uses multiple images taken at different angles to produce a cross-sectional image of the body. Magnetic Resonance Imaging (MRI) - This technique proves detailed images of the body by using magnetic fields and radio waves. EOS Imaging - EOS imaging provides information on how musculoskeletal system interacts with the joints. The 3D image is scanned while the patient is standing and allows the physician to view the natural, weight-bearing posture. X-rays - X-ray images will allow the physician to have a closer look on whether or not the bones are growing abnormally.The images taken will help to identify any bone anomalies. Two key features to look for in a patient with Kniest dysplasia is the presence of dumb-bell shaped femur bones and coronal clefts in the vertebrae. Other features to look for include:
Platyspondyly (flat vertebral bodies)
Kyphoscoliosis (abnormal rounding of the back and lateral curvature of the spine)
Abnormal growth of epiphyses, metaphyses, and diaphysis
Short tubular bones
Narrowed joint spacesGenetic Testing - A genetic sample may be taken in order to closely look at the patients DNA. Finding an error in the COL2A1 gene will help identify the condition as a type II chondroldysplasia. Treatment
Because Kniest dysplasia can affect various body systems, treatments can vary between non-surgical and surgical treatment.
Triamcinolone acetonide is a synthetic corticosteroid medication used topically to treat various skin conditions, to relieve the discomfort of mouth sores, and intra-articularly by proceduralists to treat various joint conditions. It is also injected intralesionally (inside a lesion) to treat inflammation in some parts of the body, particularly the skin. In nasal spray form, it is used to treat allergic rhinitis. It is a more potent derivative of triamcinolone, and is about eight times as potent as prednisone. It is used for the treatment of macular edema associated with uveitis.It is also known under the brand names Kenalog (topical) and Volon A as an injection, to treat allergies, arthritis, eye diseases, intestinal problems, and skin diseases. In 2014, the U.S. Food and Drug Administration (FDA) made triamcinolone acetonide an over-the-counter drug in the United States in nasal spray form under the brand name Nasacort. Medical uses
Triamcinolone acetonide as an intra-articular injectable has been used to treat a variety of musculoskeletal conditions. When applied to the skin as a topical ointment, it is used to mitigate blistering from poison ivy, oak, and sumac. When combined with nystatin, it is used to treat skin infections with discomfort from fungus, though it should not be used on the eyes. It provides relatively immediate relief and is used before using oral prednisone. Oral and dental paste preparations are used for treating aphthous ulcers. As an intravitreal injection, triamcinolone acetonide has been used to treat various eye diseases and has been found useful in reducing macular edema.