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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Nail patella syndrome


Other Names for this Disease
  • Arthro-Onychodysplasia
  • Fong disease
  • NPS 1
  • Onychoosteodysplasia
  • Osteo-Onychodysplasia
More Names
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Your Question

I have two children affected by nail patella syndrome. Would physiotherapy help stabilize their joints?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is nail patella syndrome?

Nail patella syndrome is an inherited condition characterized by abnormalities of the nails, knees, elbows, and pelvis. Other areas of the body may also be affected, particularly the eyes and kidneys. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.[1] This condition is transmitted in an autosomal dominant fashion and results from mutations in the LMX1B gene.[1][2] Treatment is symptomatic and supportive.[2][3]
Last updated: 7/18/2011

Can physiotherapy be used to help stabilize the joints in individuals affected by nail patella syndrome?

Orthopedic problems associated with nail patella syndrome may be helped by analgesics, physiotherapy, splinting, bracing, or surgery. Because of the abnormal joint anatomy that may be present in patients with this condition, MRI of joints is important prior to surgery so that appropriate surgical treatment can be planned in advance.[3][4]
Last updated: 7/18/2011

References