What is Nail Patella Syndrome? Causes, Symptoms, and Treatment

Nail Patella Syndrome refers to the abnormalities of knees, nails, pelvis, and elbows. The most common symptom of the NPS (nail-patella syndrome) is undeveloped or missing toenails and fingernails.

It is sometimes also known as hereditary osteoonychosysplasia (HOOD) or Fong Syndrome. However, this is a very rare genetic disorder that commonly affects fingernails. But may also affect the joints throughout the body, including your knees and other body systems like kidneys and nervous system.

Let us get acquainted with everything you need to know about it.

Symptoms of NPS

The NPS symptoms are detectable as early as infancy; however, the symptoms may emerge later in life. The symptoms of the health condition are often experienced in

• Nails
• Elbows
• Knees
• Pelvis

Around 98 percent of people with the health condition experience symptoms that affect their fingernails. The symptoms include:

• Usually small fingernails
• Absent fingernails
• Discoloration
• Usually thin nails
• Longitudinal nail splitting
• Triangular shaped lunula

Other Symptoms Include

• Irregularly shaped patella
• Disfigured small toenails
• Knee displacement
• Patellar dislocation
• Protrusions from bones around and in the knee
• Limited motion range
• Elbow’s arthrodysplasia
• Elbows dislocation
• Joints hyperextension
• Iliac horns
• Tight Achilles tendon
• Back pain
• Kidney issues
• Lower muscle mass
• Eye issues

Additionally, as the study suggests, around half of the people with NPS experience patellofemoral instability that means your kneecap has moved out of the appropriate alignment.

Causes of NPS

NPS is not a common health condition. Research indicates that the health condition is found in one out of 50,000 people.

It is considered more a genetic disorder that is more common in people who have a family history. If the parents have the NPS disorder, there is a 50 percent chance that their children will also have health conditions.

Diagnosis of NPS

NPS can be diagnosed at several stages throughout life. It can sometimes be diagnosed while a baby is in the womb or utero using ultrasonography and ultrasound.

In the case of infants, the doctors may diagnose the health condition by identifying the bilateral symmetrical iliac spurs or missing kneecaps.

In other, the doctor may diagnose the health condition by clinical evaluations, lab testing, and family history.

Doctors may also use the below-mentioned tests to identify the abnormalities in the joints, soft tissues, and bones affected by NPS.

• X-rays
• Computed Tomography
• Magnetic Resonance Imaging

Complications Involved!

NPS can lead to ample complications and affect several joints throughout the body. The complications include

• Increased fracture risk
• Scoliosis
• Preeclampsia
• Gastrointestinal issues
• Impaired sensation
• Renal Complications
• Glaucoma

Treatment of NPS

There is no exact cure for NPS. However, the treatment of NPS generally focuses on managing the symptoms.

For instance, knee pain can be managed by

• Pain-relieving medications
• Braces
• Splints
• Physical therapy

Also, corrective surgery is sometimes required, especially post fractures.

People with health conditions are required to be monitored for kidney issues. However, the doctor may recommend annual urine tests to monitor kidney health. Also, if the issue develops, dialysis and medications may help manage the kidney issues.

Pregnant women with the health condition may carry a risk of developing preeclampsia, a severe condition that can lead to seizures and sometimes death.

Blood Pressure monitors regular parental care, but you need to be sure that your doctor knows about the health condition so that they can be aware of the increased risks involved.

NPS also involves the glaucoma risk complication. So if a person has NPS, you might be recommended to go for regular eye examinations.

Bottom Line!

NPS is a rare genetic disorder that is often inherited from the parents. There is no accurate cure for the NPS, but overall, a multidisciplinary approach is required to manage and treat NPS symptoms and complications.

You got to consult a medical doctor to find the best treatment to manage the symptoms.