SNP Shot: Genomic Insights

CHST3-related skeletal dysplasia is a genetic disorder impacting bones and joints, leading to progressive abnormalities. Individuals with this condition experience short stature, typically remaining under 4.5 feet tall as adults. Joint dislocations, frequently involving the knees, hips, and elbows, are present from birth (congenital dislocations). Additional skeletal problems may include clubfoot, restricted movement in major joints, and spinal curvature. While the condition primarily affects the musculoskeletal system, some individuals have presented with minor heart defects.

The preferred name for this condition remains under discussion among researchers. Due to its resemblance to Larsen syndrome, it is occasionally referred to as autosomal recessive Larsen syndrome. Alternative names used in the past include spondyloepiphyseal dysplasia, Omani type; humero-spinal dysostosis; and chondrodysplasia with multiple dislocations. The encompassing term CHST3-related skeletal dysplasia is a more recent proposal, intended to describe bone and joint issues caused by mutations in the CHST3 gene.

Inheritance:

The inheritance pattern for this condition is autosomal recessive. This means that both copies of the CHST3 gene within an individual's cells must have mutations to cause the disorder. Parents of individuals with this condition each carry one mutated copy of the gene but usually do not exhibit any symptoms themselves.