SNP Shot: Genomic Insights

Spondyloperipheral dysplasia is a condition affecting bone development. Its defining features include flattened vertebrae in the spine (platyspondyly) and abnormally short fingers and toes (brachydactyly), excluding the big toes. Individuals with spondyloperipheral dysplasia may also exhibit other skeletal problems such as short stature, shortened arm and leg bones, an exaggerated arch in the lower back (lordosis), and clubfoot. In addition, some affected individuals experience nearsightedness (myopia), hearing impairment, and intellectual disability.

Inheritance:

The inheritance pattern is likely autosomal dominant, meaning that only one copy of the mutated gene is needed in each cell for the condition to develop.