SNP Shot: Genomic Insights

Kniest dysplasia is a bone growth disorder resulting in short stature (dwarfism) and other skeletal issues, along with potential vision and hearing impairments.

Individuals with Kniest dysplasia are typically born with a short trunk and limbs. Their adult height typically ranges from 42 to 58 inches. They often experience abnormally large joints, leading to pain, restricted movement, and potentially arthritis. Additional skeletal features may include kyphoscoliosis (a rounded and curved upper back), platyspondyly (flattened spinal bones), dumbbell-shaped bones in the limbs, long, knobby fingers, and clubfoot (an inward- and upward-turning foot).

People with Kniest dysplasia often have a round, flat face with prominent, widely spaced eyes. Some infants are born with a cleft palate. Weakness of the trachea can cause breathing difficulties in infants. Myopia (severe nearsightedness) and other eye conditions are common, and retinal detachment can cause blindness. Recurrent ear infections may lead to hearing loss.

Inheritance:

Kniest dysplasia follows an autosomal dominant inheritance pattern. This means that having only one copy of the mutated gene in each cell is enough to cause the condition.