Nail Patella Syndrome: Causes, Symptoms, Treatments, Complication.

Nail Patella Syndrome


Ever met or heard of this with this Nail-Patella Syndrome? Probably not, in this post, you will learn all about nail-patella syndrome, including its causes, symptoms, treatments, complication.

What is NPS?

Individuals with nail abnormalities have this issue of nail-patella syndrome. In this case, you nails may be absent, underdeveloped, discolored, ridged, split or sometime gets pitted texture. This syndrome mostly affects the fingernail as compared to toenails. Many people suffering with this nail disorder, observe that the area of nail base (lunulae) acquire the shape of triangular instead of usual crescent shape.

Nail patella syndrome causes so many changes in your nails, elbow, kneecaps (patellae), and also the hip bones. Well the most common symptom of this nail syndrome underdeveloped fingernails and toenails or gets missing. Its other symptoms include having small or missing kneecaps, extra small piece of bone on both sides of hip, underdeveloped elbows. People having this nail-patella syndrome have great risk of developing high fluid pressure in eye and kidney disease.

What Causes Nail Patella?

Main causes of this Nail patella syndrome is by fault in gene called LMX1B which gets inherited from one parent.

In some cases, LMX1B gene mutation (alteration) mainly occurs for the first time. Diagnosis for this nail disorder is confirmed by genetic testing. Its treatment nail-patella syndrome includes physical therapy or surgery for joint problems. Other treatments depend on the symptoms present in each person.

The main cause of this nail syndrome that is LMX1B gene gives the body instruction to make protein which is thought to prevent when other genes are turned on. Other genes make proteins important for the development of nails, kneecaps, eyes and kidneys.

It’s very rare that people who face such symptoms of nail-patella syndrome don’t have a pathogenic variant in the LMX1B gene. There are others genes in which pathogenic variants which causes nail patella syndrome.

What Are The Symptoms Of Nail Patella Syndrome?

Symptoms Of Nail Patella Syndrome

Syndrome is condition which is characterized by group of symptoms that occurs simultaneously. Doctors can easily identify this nail patella syndrome by identifying several key identifying symptoms.

Some common symptoms of this Nail Patella syndrome are as follow:

  • Presence of hypoplastic patella on radiographs
  • bony exostosis on radiographs of right iliac crest
  • Knees instability
  • Restricted movements of the elbows
  • Subluxation of the radial head
  • Hyperextension of joints
  • Presence of scoliosis
  • Occurrence of scapular hypoplasia

How To Diagnosis Of Nail Patella Syndrome?

Diagnosis procedure of nail patella syndrome includes genetic testing. This diagnosis procedure is done when a person has gone through clinical test that identify symptoms like fingernail or toenail abnormalities, hip bone or elbow abnormalities, missing or small kneecaps. Easy diagnosis can be made when a person has at least one of these characteristic symptoms.

 Around 95% of people suffering with this nail syndrome have this mutation in their LMX1B gene. A genetic test which identifies mutation in the gene can confirm diagnosis in both people i.e people with clinical diagnosis, and also in the person where the clinical diagnosis is uncertain.

What Are Treatments For Nail-Patella Syndrome?

  • Joints and bones which are get affected by this nail –patella syndrome can be cured by using analgesic, usage of splints or bracing, physical therapy or surgical procedures. Non-steroidal anti-inflammatory drugs (NSAIDs) should be avoided meanwhile this Nail-Patella Syndrome because it affects your renal functions harshly.
  • In case of hypertensions like issue, ACE inhibitors are used to control this.
  • Clear checkups for glaucoma or renal disorders are imperative for people having this problem of nail-patella syndrome.
  • Nail-Patella Syndrome also causes autosomal dominant disorder. so in such cases genetic counseling is required.

Go For The Regular Tests

Sufferers of nail patella syndrome need to check for whether they have kidney problems or not. For this urine tests are carried out. As High level proteins in urine required to treat with proper medicines.  Every year urine and blood pressure needs to check out.

Kidney problem also arises during pregnancy in women having nail patella syndrome. So, it’s recommended that pregnant women having the problem blood pressure should go for urine test.

Screening for glaucoma must start from the child’s age when he/she easily co-operate with the examination. Treatment of glaucoma involves uses eye drops or procedures to reduce pressure inside eye.

Home Remedies For Nail Patella Syndrome:

You can try the home remedies for treating up the nail patella syndrome. So start the countdown:

Remedy 1: Baking soda:

Why it Works:

Baking soda (sodium bicarbonate) contains such strong anti-fungal properties this kitchen ingredient causes the fungal agents causing infections like onychomycosis.

You Will Need
  • 1 tbsp of baking soda
  • Water
What You Have To Do:
  1. Take 1 tbsp. of baking soda; add few drops of water and form thick paste of this.
  2. Apply this paste over the affected nail.
  3. After 20-30 minutes wash this off.
How Often You Should Do This:

Try this 1-2 time a day.

Remedy 2: Hydrogen Peroxide

Why This Works:

Hydrogen peroxide has such anti-fungal nature that helps in fighting off the fungi which is responsible for causing nail disorders like nail patella syndrome.

Ingredients to use:
  • ½ cup of 3% hydrogen peroxide
  • 3 cups of water
What You Have To Do
  1. Take half cup of 3% hydrogen peroxide in 3 cups of water.
  2. Mix these ingredients well and then transfer it in a small tub.
  3. Dip your feet in hydrogen peroxide bath for at least 20 minutes.
  4. Pat your foots to get dry and after then properly apply some moisturizer.
How Often You Should Do This

Try this procedure once daily.

Complications of Nail-Patella Syndrome

Symptoms listed above are quiet weird and sound scary, but do you know what they can lead to. Nail patella syndrome causes knee joints to become easily dislocated and other joints to be either stiff or excessive flexible. It also makes the spine to get curved which is known as scoliosis.

Also the increased pressure in eyes causes’ disease named glaucoma and apart from that it also causes blindness like issues if left untreated. Sometime abnormal kidney function results to several kidney diseases or even total kidney failure.


So now you know what to look for Nail-Patella Syndrome. Basically, there is no specific cure for the syndrome. But specialized treatments are available to encountering each of the complications of Nail-Patella Syndrome.

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