Definition

What is Nail-patella syndrome?

Nail-patella syndrome is a condition characterized by abnormalities of the nails, knees, elbows, and pelvis. In Nail-patella syndrome, the nails may be entirely absent or not fully developed. They might even be discolored or split. The fingernails are the ones that are maximally affected and more so the thumbnails. The features of Nail-patella syndrome vary in severity between affected individuals, even among members of the same family.

How common is Nail-patella syndrome?

Nail-patella syndrome is not common. The prevalence of this condition is estimated to be 1 in 50,000 individuals. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Nail-patella syndrome?

The common symptoms of Nail-patella syndrome are:

  • Presence of hypoplastic patella on radiographs
  • Presence of bony exostosis on radiographs of right iliac crest
  • Instability of the knees
  • Limited motion of the elbows
  • Subluxation of the radial head
  • Hyperextension of joints
  • Presence of scoliosis
  • Presence of scapular hypoplasia

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Nail-patella syndrome?

The gene responsible for Nail-patella syndrome is the LMX1B gene. This gene gives instructions for production of a protein whose function is to attach to regions of DNA and regulate activity of the other genes. Mutations in this gene cause production of nonfunctional protein and its inability to attach to the DNA.

Risk factors

What increases my risk for Nail-patella syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Nail-patella syndrome diagnosed?

A confirmatory diagnosis of Nail-patella syndrome is made depending on the clinical findings. This is the only disease caused by mutations in the LMX1B gene.

How is Nail-patella syndrome treated?

The bones and joints affected by Nail-patella syndrome can be treated by use of analgesics, physical therapy, use of splints or bracing, and even surgical procedures. NSAIDs need to be avoided in Nail-patella syndrome due to how it affects the renal function.

For complications like hypertension, this can be controlled using ACE inhibitors.

Close monitoring for glaucoma or renal disorder is imperative for people diagnosed with Nail-patella syndrome.

Genetic counseling is required for Nail-patella syndrome as this is an autosomal dominant disorder.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Nail-patella syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 22, 2018 | Last Modified: February 22, 2018

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