Information on Kniest dysplasia : Music Search Site
Information on Kniest dysplasia
Kniest dysplasia and demonstrated abnormality of collagen fibril organization by electron microscopy in each. Fibrils were much thinner than normal and were irregular in shape, without the characteristic banding pattern. Furthermore, chondrocalcin was found to be absent from the extracellular matrix of epiphyseal cartilages and to be abnormally concentrated in intracellular vacuolar sites where it was not part of the procollagen molecule. Type II collagen alpha chain size was normal, indicating the formation of a triple helix; the content of type II collagen was also normal.
Kniest dysplasia is an uncommon inherited disorder of bone growth. The condition is characterized by dwarfism, enlarged joints and other skeletal abnormalities, and problems with vision and hearing. Kniest dysplasia is a subtype of collagenopathy, types II and XI. People with this condition are short-statured from birth, with a short trunk, shortened limbs, and large joints.
The literature on vitreoretinal degeneration such as Wagner’s disease or Stickler syndrome may indicate the relation of Kniest dysplasia to similar diseases. Because they might have different clinical courses and visual prognosis according to the original biosynthetic disorders, we emphasized the importance of orthopedic diagnosis regarding such vitreoretinal degeneration with constitutional bone diseases.
Kniest is a random genetic change. Kniest is usually sporadic and is due to the chance occurrence of a genetic mutation. It is the result of a genetic defect in encoding type II collagen (COL2A1). Most Kniest mutations are due to small changes on chromosome 12. Note that this is a purely random occurrence and that there is nothing either parent did to cause this genetic change.
Signs include a progressively shortened spine due to spinal curvature (kyphoscoliosis and lumbar lordosis), severely flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the arms and legs, long and knobby fingers, and occasionally a foot deformity called clubfoot. People with Kniest dysplasia have round, flat faces with prominent and wide-set eyes. Some infants are born with an opening in the roof of the mouth (a cleft palate). Infants may also have breathing problems due to weakness of the windpipe. Severe nearsightedness (myopia) is common, as are other eye problems that can lead to blindness. Hearing loss resulting from recurrent ear infections is also possible.
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Kniest dysplasia. This medical information about signs and symptoms for Kniest dysplasia has been gathered from various sources, may not be fully accurate, and may not be the full list of Kniest dysplasia signs or Kniest dysplasia symptoms. Furthermore, signs and symptoms of Kniest dysplasia may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Kniest dysplasia symptoms.
People with this condition are short-statured from birth, with a short trunk, shortened limbs, and large joints. Adult height ranges from 107 to 147 cm (42 inches to 58 inches). Progressive joint enlargement and pain restrict joint movement, which limits activity and interferes with standing and walking. These joint problems can also lead to arthritis. Other skeletal signs include a progressively shortened spine due to spinal curvature (kyphoscoliosis and lumbar lordosis), severely flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the arms and legs, long and knobby fingers, and occasionally a foot deformity called clubfoot.
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Information on Kniest dysplasia / Author: peterhutch
