About Nail Patella Syndrome

What is Nail Patella Syndrome?

Nail-patella syndrome (NPS) is a rare genetic disorder that affects the nails, bones, and kidneys. It is characterized by the absence or underdevelopment of the fingernails and toenails, abnormalities of the kneecaps (patellae), and kidney disease. Other features of the disorder may include elbow deformities, skeletal abnormalities, and hearing loss. NPS is caused by a mutation in the LMX1B gene and is inherited in an autosomal dominant pattern. Treatment is based on the individual's symptoms and may include physical therapy, surgery, and medications.

What are the symptoms of Nail Patella Syndrome?

Common symptoms of Nail Patella Syndrome include:

-Absent or underdeveloped fingernails and toenails
-Abnormal kneecaps (patellae)
-Abnormal elbow joints
-Abnormal kidney development
-Hearing loss
-High blood pressure
-Abnormalities of the spine
-Abnormalities of the ribs
-Abnormalities of the pelvis
-Abnormalities of the eyes
-Abnormalities of the teeth
-Abnormalities of the heart
-Abnormalities of the blood vessels
-Abnormalities of the skin
-Abnormalities of the bones
-Abnormalities of the nervous system
-Abnormalities of the immune system
-Abnormalities of the digestive system
-Abnormalities of the urinary system

What are the causes of Nail Patella Syndrome?

Nail Patella Syndrome is caused by a mutation in the LMX1B gene. This gene is responsible for the production of a protein that helps to regulate the development of certain tissues in the body, including the nails, patella (kneecap), and kidneys.

What are the treatments for Nail Patella Syndrome?

The treatments for Nail Patella Syndrome vary depending on the individual and the severity of the condition. Generally, treatments may include physical therapy, orthopedic surgery, medications, and lifestyle modifications. Physical therapy can help improve joint mobility and strength, while orthopedic surgery may be necessary to correct skeletal deformities. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids may be used to reduce inflammation and pain. Lifestyle modifications such as avoiding activities that put stress on the joints, wearing supportive shoes, and using assistive devices can also help manage symptoms.

What are the risk factors for Nail Patella Syndrome?

1. Family history: Nail Patella Syndrome is an inherited disorder, so having a family history of the condition increases the risk of developing it.

2. Gender: Nail Patella Syndrome is more common in males than females.

3. Age: Nail Patella Syndrome is usually diagnosed in childhood or adolescence.

4. Ethnicity: Nail Patella Syndrome is more common in people of Northern European descent.

Is there a cure/medications for Nail Patella Syndrome?

There is no cure for Nail Patella Syndrome, but medications can be used to manage the symptoms. These medications may include pain relievers, muscle relaxants, and medications to reduce inflammation. Physical therapy and occupational therapy may also be recommended to help manage the symptoms.