CHST3-related skeletal dysplasia

CHST3-related skeletal dysplasia, also known as spondyloepiphyseal dysplasia with congenital joint dislocations (sedcjd), chondrodysplasia with multiple dislocations (CDMD), or autosomal recessive Larsen syndrome, is a rare inherited disorder of cartilage and bone development caused by mutations in the CHST3 gene. This gene encodes carbohydrate sulfotransferase 3, an enzyme essential for the proper sulfation of chondroitin, a key component of cartilage. Deficiency of this enzyme leads to abnormal cartilage structure and skeletal development. The condition primarily affects the skeletal system and is characterized by short stature, severe joint dislocations (particularly of the knees, hips, and elbows), progressive kyphoscoliosis (abnormal curvature of the spine), and distinctive hand abnormalities including short fingers and a characteristic hitchhiker thumb appearance. Epiphyseal and vertebral abnormalities are prominent on radiographic imaging, with flattened vertebral bodies and irregular epiphyses. Joint hypermobility and progressive joint contractures may also develop. Some patients experience mild heart valve abnormalities. Hearing loss has been reported in some affected individuals. There is currently no cure or disease-specific treatment for CHST3-related skeletal dysplasia. Management is supportive and multidisciplinary, focusing on orthopedic interventions for joint dislocations and spinal deformities, physical therapy to maintain mobility and function, and monitoring for potential cardiac and hearing complications. Surgical correction may be necessary for severe joint dislocations or progressive scoliosis. Early diagnosis through clinical evaluation and genetic testing allows for appropriate surveillance and timely intervention to optimize outcomes.

Common questions about CHST3-related skeletal dysplasia