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Kniest Dysplasia

Kniest Dysplasia Causes

Kniest dysplasia is caused by new mutations in the COL2A1 gene.

Kniest Dysplasia Definition

Kniest Dysplasia is a rare genetic bone growth disorder; it is an uncommon kind of inherited disorder. It is a subtype of Type II and XI collagenopathies, which are described as group of disorders that affect the tissue supporting the body's joints and organs. This disorder is usually exemplified by dwarfism, skeletal anomalies, enlarged joints, as well as vision and hearing deficiencies.

Kniest Dysplasia Symptoms and Signs

Kniest dysplasia is characterized by any or a combination of the following presentations: * Short stature noted since birth, combined with short trunk, big joints, and shortened limbs * Continuous enlargement of the joints alongside pain, which eventually restricts movement of that area. * Increasingly shortened spine brought about by significant spinal curvature * Arms and legs have remarkable dumbbell-shaped bones in the legs and arms * Bones of the spine are severely flattened (platyspondyly) * Fingers are long and distorted * On rare cases, a foot deformity referred to as “clubfoot” appears * Prominent and wide-set eyes with a round and flat face * Infants are born with cleft palate * Breathing problems in infants * Severe myopia and other eye concerns that may result to blindness * Recurrent ear infections may lead to deafness

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