Kniest dysplasia or Kniest syndrome is a sort of gaunt dysplasia that is very rare in its happening . due to an autosomal dominant gene irregularity , this disorderliness or condition was first termed as Kniest dysplasia by the German pediatrician Wilhelm Kniest , in the year 1952 . Previously , this type of dysplasia was considered to be Pseudometatropic or Metatropic dysplasia Type II . However , it was since 1952 that this sort of dysplasia is distinctly recognise as freestanding from other kinds of dysplasia . Kniest dysplasia or Kniest syndrome is as uncommon a disease as fall out in only one person per 1,000,000 hot births and affects male as well as distaff child equally .
What is Kniest Dysplasia or Kniest Syndrome?
Kniest dysplasia or Kniest syndrome is a rare genetical ivory growth upset or a deformity in the development of at least one bone in the torso , characterized by nanism or short stature and other problems connect with hearing and vision .
It take to be understood that not all kind of off-white or skeletal development malformation head to a short stature . Bone growth is an extremely complex process that can be disrupted by dissimilar causes , take to 200 unlike forms of skeletal dysplasia . Some are associated with defects in bone formation during puerility or even fetal development and some are link up with hormonal imbalance . When it is link with gene mutation defects , it is known as Kniest dysplasia or Kniest syndrome .
Symptoms of Kniest dysplasia or Kniest Syndrome:
The symptoms of Kniest dysplasia change during childhood and adulthood . The symptom of Kniest syndrome during childhood include –
As the child arise up with Kniest dysplasia or kniest syndrome , the symptoms that he or she expresses , include –
However , the intelligence remains unaffected in Kniest dysplasia or kniest syndrome .
Mechanism of Gene Mutation Associated with Kniest Dysplasia or Kniest Syndrome:
Kniest dysplasia or kniest syndrome is get due to COL2A1 factor mutation . The function of this gene is to provide the educational activity for mold the eccentric II collagen , which is a type of protein . The type II collagen is a basic constituent for bone formation and is found in the clear gelatin which fill the eyeball and the cartilage that take form the inner capitulum and eye . This gristle plays a very significant function in making up the early skeletal development with this tough , flexible tissue paper . Hence , as the primary component part of this cartilage , case II collagen has a very important purpose . The gristle is present in the external ears and nose and protect the ends of clappers . Most of the clip , it gets exchange into os during normal bone organisation process .
There are different other sort of collagens , go up about 25 in number . However , the Kniest syndrome is associated only with those factor that apprise the type II collagen formation . During normal pearl formation , the character II collagen works as a connective tissue paper forming the body ’s supportive framework . In Kniest dysplasia or kniest syndrome , the COL2A1 factor interferes with the type II collagen molecules assembly . In this disorder , the gene fails to properly instruct the formation of eccentric II collagen and hence , abnormal collagen prevents connective tissues and castanets to develop and form the bone body structure in good order .
Causes and Risk Factors of Kniest Dysplasia or Kniest Syndrome:
Kniest dysplasia or kniest syndrome is an autosomal predominant gene inheritance upset that mean that if the tike carry even a single transcript of the altered gene in each cell , it will be sufficient enough to stimulate this disorderliness . However , the prospect of modernise Kniest dysplasia or kniest syndrome in each of the children of an moved parent is 50 % . Although it can be inherited , if even a single parent is affected with Kniest dysplasia or kniest syndrome ; it can also occur with no history of this upset in the family .
The cause of the gene mutation has no specific or apparent reasonableness . If one invite a normal gene and an abnormal cistron responsible for the disease , the someone will be a postman of Kniest dysplasia , but will not show symptoms . If both the parents are letter carrier of these unnatural genes responsible for Kniest dysplasia or kniest syndrome and both go the defective factor , the chance for an unnatural child is 25 % with each pregnancy and in 50 % slip of each pregnancy , there is a chance that the child will also be a carrier . As a result , the chance for the child to experience normal factor from both the parents is also 25 % .
Diagnosis and Tests for Kniest Dysplasia or Kniest Syndrome:
Starting with a exhaustive medical history of the individual with the symptoms , the trial for this disorder bit by bit proceeds towards –
Although all these symptomatic exam are run once the child is support and is assure to have some unnatural bone social organization and development , there are procedures that can diagnose Kniest dysplasia or kniest syndrome in the kid in good order within the uterus of the mother .
Tests to Diagnose Kniest Dysplasia or Kniest Syndrome in Prenatal Stage:
If parent , who have Kniest dysplasia or kniest syndrome and bid to have kid , desire to know the opening of their children acquiring this disorder , there are tests that can recognize some of the mutations . Amniocentesis and CVS are the symptomatic test that can identify the known Kniest mutation . Sometimes , some of the bone anomalousness in the fetus can be identified by sonograms in the end of the 2d trimester . Hence , it is very authoritative and helpful for the would - be parent to see a transmitted counselor to know for the potential gene mutation .
Complications of Kniest Dysplasia or Kniest Syndrome:
little height is a common complication that children as well as adults with Kniest dysplasia or kniest syndrome have . All the complications consociate with short stature are also present in them . However , with advancement of treatment , these extra and associated complications can well be grapple . Hearing and visual difficulties and complications are common in them . Some of the children with Kniest dysplasia or Kniest syndrome also have hydrocephalus or excessive fluid around the head . A gradual development of apnea or a irregular occlusive in external respiration during sleep is also a potential ramification that is seen to occur in many . This is a resultant of the air passage impediment by the tonsilla adenoidea or the tonsils induce by the abnormally small pearl anatomy . However , with other detective work and surgical correction , all these complications can be handle .
What becomes more serious job and complication for these child , as they grow into dwarf adults are –
However , with proper therapy and counseling of the aesculapian PCP , these difficulties can be lessened to a not bad extent , making certain that the mortal receives a dependable life and increase forcible activity .
Treatment and Management of Kniest Dysplasia or Kniest Syndrome:
There is no possible discussion for Kniest dysplasia or kniest syndrome . However , for some of the symptoms associated with this upset , there is a potential treatment that can help the nestling get rid of those difficulties and complication right at the very tender age . These direction technique include physical and occupational therapy , operation , psychological help and general care giving .
The general orthopedical precondition such as hip dysplasia , scoliosis , craniofacial anomalies , arm shortening and joint stiffness are some of the mutual trouble consociate with Kniest dysplasia or kniest syndrome can be treated with surgical help at the very vernal and sensitive age of the child . crevice palate and club foot symptoms can also be treated with surgery .
However , each child has a different set of knottiness and depending on these complication , the right intervention and management platform are choose . It is always proficient to visit the specialists for specific problems and to do by them well . Kniest dysplasia or kniest syndrome is not a lifespan threatening trouble and hence , with right care and health management , a serious aliveness can be give to the individuals . You need to consult –
Regular sojourn of the experts for follow up care is a very useful mode of make assured that the child is stupefy the best precaution and treatment . Understanding the difficultness of the minor and making the home atmosphere worthy for them is also a part of the management and care .
