eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Nail-Patella Syndrome: Differential Diagnoses & Workup

Author: Julie Hoover-Fong, MD, PhD, FACMG, Assistant Professor, Director, Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University
Coauthor(s): Iain McIntosh, PhD, Professor of Medical Genetics, Chair, Department of Molecular and Cell Biology, Director, Stephen Gaffin Research Laboratory, American University of the Carribean; Elizabeth Sweeney, MBChB, MD, Consultant Clinical Geneticist, Royal Liverpool Children's Hospital, UK
Contributor Information and Disclosures

Updated: Oct 20, 2009

Differential Diagnoses

Genitopatellar syndrome
Meier-Gorlin syndrome
Patellar aplasia-hypoplasia
Radial and patellar aplasia/hypoplasia, cleft or high arched palate, infantile diarrhea and dislocated joints, little size and limb malformations, long slender nose and normal intelligence (RAPADILINO) syndrome
Small patella syndrome (ischiopatellar dysplasia, Scott-Taor syndrome)

Workup

Laboratory Studies

  • Annual screening urinalysis with microscopy is indicated in patients with nail-patella syndrome (NPS) to evaluate for proteinuria and hematuria. A urine protein-to-creatinine ratio or albumin-to-creatinine ratio is also indicated.
  • Annual blood pressure measurements and annual BUN and creatinine level assessments are indicated.
  • Consider 24-hour urine collection to quantitate protein and creatinine excretion if above screening results are abnormal.

Imaging Studies

  • Radiography may reveal iliac horns, hypoplastic patellae or abnormal radial heads.
  • If joint surgery planned, conduct MRI of that joint to identify abnormal tendon, ligament, and/or muscle insertions and vessel distribution prior to surgery. Anatomy of joints in patients with nail-patella syndrome is typically abnormal.

Other Tests

  • Perform annual dilated ophthalmologic examination including slit-lamp quantification of intraocular pressure and visual fields. 
  • Consider dual energy x-ray absorptiometry (DEXA) scanning to evaluate bone mineral content and density as surrogate indicator of bone strength. Bone mineral density is decreased by 8-20% in the hips of patients with nail-patella syndrome, and increased fractures have been reported.

Procedures

  • Renal biopsy may be indicated after referral to nephrologist for evaluation of progressive renal insufficiency, proteinuria, and hypertension in nail-patella syndrome.
  • Light microscopy reveals glomerulonephritis and basement membrane thickening; however, negative results do not rule out pathological processes in the kidney.
  • Electron microscopy can reveal ultrastructural changes, such as irregularities and thickening of the basement membrane and the presence of collagen-like fibrils within the basement membrane, which cannot be seen with light microscopy. These appearances are pathognomonic.

Histologic Findings

  • Increased lucency of the glomerular basement membrane resembles a moth-eaten appearance. A typical lesion consists of irregular basement membrane thickening, epithelial foot process fusion, and the presence of fibrillar collagenlike material within the basement.
  • Histological features are present even in patients without clinically evident renal involvement.

More on Nail-Patella Syndrome

Overview: Nail-Patella Syndrome
Differential Diagnoses & Workup: Nail-Patella Syndrome
Treatment & Medication: Nail-Patella Syndrome
Follow-up: Nail-Patella Syndrome
Multimedia: Nail-Patella Syndrome
References
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References

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Further Reading

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Keywords

nail-patella syndrome, NPS, Fong disease, NPS 1, onycho-osteodysplasia, hereditary onycho-osteodysplasia disease, HOOD, Turner-Kieser syndrome, arthro-onychodysplasia, nephrotic syndrome, end-stage renal disease, ESRD, end-stage renal failure, ESRF, , proteinuria, spondylolisthesis, attention deficit disorder, ADD, attention deficit hyperactivity disorder, ADHD, constipation, irritable bowel syndrome, IBS, osteoarthritis, treatment, diagnosis

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Contributor Information and Disclosures

Author

Julie Hoover-Fong, MD, PhD, FACMG, Assistant Professor, Director, Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University
Julie Hoover-Fong, MD, PhD, FACMG is a member of the following medical societies: American College of Medical Genetics, American Society of Human Genetics, and International Skeletal Dysplasia Society
Disclosure: Nothing to disclose.

Coauthor(s)

Iain McIntosh, PhD, Professor of Medical Genetics, Chair, Department of Molecular and Cell Biology, Director, Stephen Gaffin Research Laboratory, American University of the Carribean
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.

Medical Editor

Christian J Renner, MD, Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Leonard G Feld, MD, PhD, MMM, FAAP, Sara H Bissell and Howard C Bissell Endowed Chair in Pediatrics, Chief Medical Officer, Levine Children's Hospital, Carolinas Medical Center
Leonard G Feld, MD, PhD, MMM, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physician Executives, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Juvenile Diabetes Foundation International
Disclosure: Nothing to disclose.

CME Editor

Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine
Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine
Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

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