Kniest has an autosomal dominant inheritance. When a person has Kniest, he/she has a 50% chance having a child with Kniest.
Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. People with this condition have short size from birth, with a short trunk and shortened limbs. Mature height ranges from 42 inches to 58 inches. Kniest dysplasia is one of several forms of dwarfism that is caused by a change (mutation) in a gene known as COL2A1. This gene is involved in the production of a particular protein that forms type 2 collagen, which is necessary for the normal development of bones and other connective tissue.
Changes in the composition of type 2 collagen lead to abnormal skeletal growth and, thus, to an array of dwarfing conditions known as skeletal dyssplasias. People with Kniest dysplasia have round, flat faces with prominent and wide-set eyes. Some of the signs and symptoms of Kniest dysplasia, such as short stature, enlarged knees, and cleft palate, are usually present at birth. Some infants are born with an opening in the roof of the mouth. Childs may also have breathing problems due to weakness of the windpipe.
Severe near sightedness (myopia) is common, as are other eye problems that can lead to blindness. Hearing loss resulting from recurrent ear infections is also possible. Kniest is a very rare condition with many variations. There is no height and weight chart at this time. It is important to be as lean as possible to diminish stress on joints. Regular eye exams should be done by an ophthalmologist to estimate for near-sightedness and detached retinas. A detached retina is an urgent condition. Any unusual eye symptoms should be reports to an ophthalmologist right away. Hearing should be checked and ear infections should be closely monitored.
Tubes may require to be placed in the ear. Orthopedic care may be needed to estimate hip, spinal, and knee complications. Hip replacement is sometimes warranted in adults. Treatment for Kniest dysplasia surgical treatment, but close ophthalmological follow up will be essential for their favorable prognosis. The literature on vitreoretinal degeneration such as Wagner's disease or Stickler syndrome may show the relation of Kniest dysplasia to like diseases. Because they might have dissimilar clinical courses and visual prognosis according to the original biosynthetic disorders.
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