What is Kniest Dysplasia?
Kniest Dysplasia is a very rare pathological consideration of the musculoskeletal system in which there is abnormal bone growth which have an individual to have an extremely myopic stature along with deformed bone and join . There may also be other bony abnormalities as well . Kniest Dysplasia is so rare that it is estimated to occur in one among one million birth . The classic presenting feature article of Kniest Dysplasia are distinct holes in the ivory cartilage which can be clearly picture on x - ray .
These small muddle make the cartilage weak resulting in joint swelling and extreme harshness of the join . baby born with Kniest Dysplasia have very inadequate trunk and limb and legs . There may also be facial anomalies like a flat face or bulge eye . baby with Kniest Dysplasia also tend to have foot irregularity as well . With time due to this condition , the affected child may require frequent visitation to the doc for shape like scoliosis , stiffness of the articulation along with visual and hearing issues due to Kniest Dysplasia .
What Causes Kniest Dysplasia?
Kniest Dysplasia can be inherited as well as present as a fresh trouble with ad-lib gene mutant . The factor responsible for causing Kniest Dysplasia is the COL2A1 factor . In some cases , the mutation of this gene occurs spontaneously and the baby may have this status without any fellowship account of this disorder whereas in some guinea pig Kniest Dysplasia is inherit . Kniest Dysplasia is inherited in an autosomal dominant form mean that only one copy of the defective gene from either parent is good enough to increase the risk of the child cause Kniest Dysplasia .
What are the Symptoms of Kniest Dysplasia?
Some of the symptoms of Kniest Dysplasia are :
How is Kniest Dysplasia Diagnosed?
To name Kniest Dysplasia , the doctor will first take a detailed history of the patient for calculate out if there is a family account of a status like Kniest Dysplasia . A physical exam will also be performed to await for any ft deformities , rigorousness of the joints and also seek to identify conditions like a cleft roof of the mouth . aside from this , radiological studies in the form of cristal - ray and CT or MRI CAT scan of the bone will be done to look at the inner structures of the bones . The x - rays themselves will clearly show maw in the cartilage virtually confirming the diagnosis of Kniest Dysplasia .
If Kniest Dysplasia is distrust , then a genetic examination may be done to corroborate the bearing of mutation of the gene COL2A1 which will confirm the diagnosing of Kniest Dysplasia . If there is a family history of Kniest Dysplasia in any parent then a prenatal run can be done to go over whether the child has this disorder or not by doing an ultrasound or amniocentesis which will understandably give an denotation of whether the child has the gene genetic mutation responsible for for Kniest Dysplasia .
How is Kniest Dysplasia Treated?
Treating Kniest Dysplasia is quite complex because of the variety of disorder that are embedded in it apart from its own clinical display . asunder from the unforesightful stature , there are also orthopedic abnormalities like deformed limb , articulatio coxae dysplasia , limb stiffness along with craniofacial anomaly like a categoric face and thus plow Kniest Dysplasia requires a multidisciplinary elbow grease . Surgeries will be required to regale condition like limb distance discrepancy , hip dysplasia and craniofacial anomaly where as extensive therapy may be needed to make out up with joint stiffness and difficulty with movement of the joint .
The timing of the surgery is something that needs to be planned . Some physicians opt to wait till the child is a bit older to perform operation but in legal age of the cases the surgery is done when the kid is young . Children with earreach and vision problems will be monitor close to appear for any worsening in the status . Conditions like scoliosis and hip dysplasia become only observable when the child gets a chip old and hence operation for process these conditions is withheld until the symptoms become more apparent . Conservative treatment like manipulation of a brace or a lift will also be done for limb awkwardness and branch length discrepancies due to Kniest Dysplasia .
What is the Prognosis of Kniest Dysplasia?
Kniest Dysplasia does not bear on the intelligence of a child and hence with handling majority of the children with Kniest Dysplasia lead normal respectable animation , although there is a peril of the child developing early arthritis as a upshot of Kniest Dysplasia .
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