Learn About CHST3-Related Skeletal Dysplasia
CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (congenital). Other bone and joint abnormalities can include an inward- and upward-turning foot (clubfoot), a limited range of motion in large joints, and abnormal curvature of the spine. The features of CHST3-related skeletal dysplasia are usually limited to the bones and joints; however, minor heart defects have been reported in a few affected individuals.
As its name suggests, CHST3-related skeletal dysplasia results from mutations in the CHST3 gene. This gene provides instructions for making an enzyme called C6ST-1, which is essential for the normal development of 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. Mutations in the CHST3 gene reduce or eliminate the activity of the C6ST-1 enzyme. A shortage of this enzyme disrupts the normal development of cartilage and bone, resulting in the abnormalities associated with CHST3-related skeletal dysplasia.
The prevalence of CHST3-related skeletal dysplasia is unknown. More than 30 affected individuals have been reported.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Los Angeles Pediatric Orthopaedics
Robert Cho is an Orthopedics provider in Los Angeles, California. Dr. Cho is rated as an Experienced provider by MediFind in the treatment of CHST3-Related Skeletal Dysplasia. His top areas of expertise are Scoliosis, Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, Osteotomy, and Spinal Fusion.
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 CHST3-Related Skeletal 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 CHST3-Related Skeletal Dysplasia. His top areas of expertise are CHST3-Related Skeletal Dysplasia, Kniest Dysplasia, Spondyloepiphyseal Dysplasia Congenita, and Spondyloenchondrodysplasia.
Published Date: October 01, 2012
Published By: National Institutes of Health