What Is Kniest Chondrodystrophy?
Kniest Chondrodystrophy which is also known by the name of Kniest Dysplasia is a genetic condition which is characterized by dwarfism . This condition is because of mutation in factor COL2A1 . The subprogram of this gene is to produce a protein which forms collagen II which is responsible for normal ontogeny of bones and connective tissues . An abnormality in the product of collagen II leads to abnormal gaunt ontogenesis including a sort of nanism which is the characteristic feature of Kniest Chondrodystrophy .
scant statureis the primary presenting feature of Kniest Chondrodystrophy . to boot , the unnatural soul might also have abnormally large knees and scissure roof of the mouth which can be seen at birth . The other characteristics may be seeable only after two to three years of life of the child with Kniest Chondrodystrophy .
What Causes Kniest Chondrodystrophy?
As stated above , the root cause for the exploitation of Kniest Chondrodystrophy is the mutation in the gene COL2A1 . This factor produce collagen II which is responsible for normal growing and developing of bones and connective tissues .
This condition follows an autosomal dominant design of inheritance imply that one copy of the faulty gene from either parent is good enough for the development of Kniest Chondrodystrophy .
In some face there may be de novo mutations mean that there is mutation in gene for no reason and it hap spontaneously leading to the development of Kniest Chondrodystrophy .
What Are The Symptoms Of Kniest Chondrodystrophy?
The elementary symptom of Kniest Chondrodystrophy is the unnatural soul will be of abnormally brusk height . There will be visible deformity of the upper and down extremities , a barrel shaped chest and an abnormally farsighted trunk .
As the kid grows the abnormally tenacious trunk takes the shape of a curvature of the pricker . There are also certain ocular abnormalities in person with Kniest Chondrodystrophy . Such individuals incline to have protruding oculus with scurvy nasal bridge .
Additionally , the somebody may have shortsightedness along with drooping of the eyelids , and in some casing even cecity which may be partial or all over . There can also be detachment of the retina and lens dislocations .
Cataractsare also one of the usual findings in mortal with Kniest Chondrodystrophy . There is also bearing of a cleft roof of the mouth along with speech impairments which may arrive into light when the fry is at the age where he or she commence to speak .
Musculoskeletal wise , the soul may have contract hips which can make walking difficult for the individual . There may also be flatten of the vertebrae of the spine . Inguinal and umbilical herniation may also be seen in individuals with Kniest Chondrodystrophy . Hearing lossand delayed motor development is also one of the characteristic features of Kniest Chondrodystrophy .
How Is Kniest Chondrodystrophy Diagnosed?
The characteristic presenting features of this condition at the time of giving birth let in abnormally large trunk and extremities is a big give away when it derive to the diagnosing of Kniest Chondrodystrophy .
Once this condition is suspected , a molecular testing can be done which will clearly show mutation in the COL2A1 which will confirm the diagnosing of Kniest Chondrodystrophy . to boot in advance imaging in the form ofCTandMRI scansalso financial aid in confirming the diagnosis of Kniest Chondrodystrophy .
How Is Kniest Chondrodystrophy Treated?
The independent aim of discussion for Kniest Chondrodystrophy is to correct the seeable disfigurement that the child has . This include stabilization of the joints that are lax . For this , the nipper may have to undergo a change of operative procedure .
Surgery may also be required to process detached retina and other ocular mental defectiveness found in Kniest Chondrodystrophy . Cleft palate may also be treated with surgery . Other than this , the intervention is only symptomatic and supportive for Kniest Chondrodystrophy .
