Nail - Patella Syndrome - This is a aesculapian condition which is characterise by visible abnormalities in the nail , knees , elbow etc . This stipulation develops due to mutation of a gene LMX1B. This disorder is also known by various other names like HOOD Syndrome or Fong Disease .
What Is Nail-Patella Syndrome?
Nail - Patella Syndrome as stated consists of abnormality of nail , knees , elbows etc . The clinical features of Nail - Patella Syndrome are varying in the arcdegree of severeness between affected individual . Nail abnormalities are the characteristic feature article of Nail - Patella Syndrome . In this condition , the nails may be entirely missing or not fully developed . They might even be discolored or break . The fingernails are the unity that are maximally affected and more so the thumbnails . People affected with Nail - Patella Syndrome incline to have skeletal mental defectiveness , which involve the knee , elbows , and hip in which the patella may be small and irregularly work . Patellar dislocationis common in this condition . There may be inability to fully extend the hands . Apart from the bridge player , there may be other areas that might be affected due to Nail - Patella Syndrome . These area are unremarkably the eyes and kidney . Affected individuals are at an increase risk for developingglaucomaandrenal failuredue to Nail - Patella Syndrome .
Which Gene Causes Nail-Patella Syndrome?
As stated , the gene responsible for Nail - Patella Syndrome is the LMX1B factor . This factor move over instructions for yield of a protein whose function is to attach to regions of DNA and shape natural action of the other factor . chromosomal mutation in this cistron stimulate production of nonfunctional protein and its inability to bind to the DNA .
How Common Is Nail-Patella Syndrome?
study indicate that Nail - Patella Syndrome affects 1 in 60,000 multitude .
What Are The Symptoms Of Nail-Patella Syndrome?
As stated , the characteristic feature of Nail - Patella Syndrome is the visible deformity of the finger cymbals and joints .
Some Of The Symptoms That Can Be Observed Are:
How Is Nail-Patella Syndrome Diagnosed?
A corroborative diagnosis of Nail - Patella Syndrome is made depending on the clinical findings . This is the only disease do by mutations in the LMX1B gene .
What Are Treatments For Nail-Patella Syndrome?
Also take :
