Medical Care

ACE inhibitors for proteinuria, hypertension, or both are indicated in patients with nail-patella syndrome (NPS). Consultation with a nephrologist may permit implementation of prophylactic treatment with ACE inhibitors.

Dialysis and/or renal transplant may be indicated in as many as 5% of patients who have renal involvement that progresses to end-stage renal disease.

Physical therapy, bracing, and analgesics may be needed for joint pain. Caution is necessary in using analgesics, particularly nonsteroidal anti-inflammatory drugs (NSAIDs) because renal disease may also be part of this condition.

Surgical Care

Renal transplantation has proven successful in patients with nail-patella syndrome who develop end-stage renal disease.

Patella realignment surgery may help in cases of recurrent dislocation. Joint replacement may be beneficial in cases of severe osteoarthritis of the knee or elbow.

Excision of the radial head should be undertaken only after careful consideration and only for pain relief, as range of movement is not usually improved significantly by surgery.

MRI is necessary to reveal the abnormal muscle and nerve insertions that may complicate orthopedic procedures.

A study by Tigchelaar et al found that although surgical treatment for patellofemoral instability appeared to produce unfavorable results in patients with nail-patella syndrome, patients tended to have a good opinion of the outcome. Those who underwent the surgery had lower postoperative Knee Injury and Osteoarthritis Outcome Scores and Kujala knee scores than did patients who did not undergo surgery. Nonetheless, the surgery patients had pain improvement in 87% of knees and functional improvement in 30%; patient satisfaction with surgery reached 61%.^[15]

Consultations

See the list below:

Geneticist
Orthopaedist
Ophthalmologist
Nephrologist

Diet

See the list below:

No dietary restrictions are necessary unless hypertension or nephrotic syndrome develop.

Activity

See the list below:

Joint abnormalities and pain may limit physical activity.

Medication

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Media Gallery

Nail of a patient the nail-patella syndrome.
Decreased severity of nail dystrophy towards the fifth finger and loss of skin creases over the distal interphalangeal joints. Courtesy of Journal of Medical Genetics, BMJ Publishing Group Ltd.
Triangular lunules. Courtesy of Journal of Medical Genetics, BMJ Publishing Group Ltd.
X-ray of pelvis showing iliac horns. Courtesy of Journal of Medical Genetics, BMJ Publishing Group Ltd.
X-ray of pelvis showing iliac horns in early childhood. Courtesy of Journal of Medical Genetics, BMJ Publishing Group Ltd.
Lester's sign of the iris. Courtesy of Journal of Medical Genetics, BMJ Publishing Group Ltd.

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Author

Julie Hoover-Fong, MD, PhD, FACMG Professor, Department of Genetic Medicine, Director, Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine

Julie Hoover-Fong, MD, PhD, FACMG is a member of the following medical societies: American College of Medical Genetics and Genomics, American Society of Human Genetics, International Skeletal Dysplasia Society

Disclosure: Nothing to disclose.

Coauthor(s)

Iain McIntosh, PhD President, Bendel Camus Medical Education, Inc

Iain McIntosh, PhD is a member of the following medical societies: American Society of Human Genetics

Disclosure: Nothing to disclose.

Elizabeth Sweeney, MBChB, MD Consultant Clinical Geneticist, Royal Liverpool Children’s Hospital, UK

Elizabeth Sweeney, MBChB, MD is a member of the following medical societies: British Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center

Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Christian J Renner, MD Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors Suzanne M Carter, MS, and Susan J Gross, MD, FRCS(C), FACOG, FACMG, to the original writing and development of this article.