Nail-Patella Syndrome: Causes, Symptoms, Diagnosis, Treatment

Nail-Patella Syndrome-This is a medical condition which is characterized by visible abnormalities in the nails, knees, elbows etc. This condition 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 abnormalities of nails, knees, elbows etc. The clinical features of Nail-Patella Syndrome are variable in the degree of severity between affected individuals. Nail abnormalities are the characteristic feature of Nail-Patella Syndrome. In this condition, 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. People affected with Nail-Patella Syndrome tend to have skeletal abnormalities, which involve the knees, elbows, and hips in which the kneecaps may be small and irregularly shaped. Patellar dislocation is common in this condition. There may be inability to fully extend the hands. Apart from the hands, there may be other areas that might be affected due to Nail-Patella Syndrome. These areas are usually the eyes and kidneys. Affected individuals are at an increased risk for developing glaucoma and renal failure due to Nail-Patella Syndrome.

Nail-Patella Syndrome

Which Gene Causes Nail-Patella Syndrome?

As stated, 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.

How Common Is Nail-Patella Syndrome?

Studies indicate that Nail-Patella Syndrome affects 1 in 60,000 people.

What Are The Symptoms Of Nail-Patella Syndrome?

As stated, the characteristic feature of Nail-Patella Syndrome is the visible deformity of the bones and joints.

Some Of The Symptoms That Can Be Observed 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

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.

What Are Treatments For Nail-Patella Syndrome?

  • 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.

Also Read:

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:February 1, 2019

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