font size

Definition of Nail-patella syndrome

Nail-patella syndrome: An hereditary condition characterized by abnormally formed or absent nails and underdeveloped or absent kneecaps (patellae). Other features include:

  • Iliac horns
  • Abnormality of the elbows interfering with full range of motion (pronation and supination)
  • Kidney disease resembling glomerulonephritis, which can be progressive and lead to renal failure.

Nail-patella syndrome (NPS) is inherited as an autosomal dominant trait. The risk NPS will be transmitted by an affected parent to each child is 50%. In a pioneering research, the gene for NPS was found in 1965 to be linked genetically to the ABO blood group locus in chromosome region 9q34. NPS is caused by mutations in a gene called LMX1B (the LIM homeo box transcription factor 1, beta gene). NPS is also called Fong disease and Turner-Kieser syndrome.

Source: MedTerms™ Medical Dictionary
http://www.medterms.com/script/main/art.asp?articlekey=4500
Last Editorial Review: 8/28/2013

Drug Medical Dictionary of Terms by Letter

Top RxList Drug News

Women's Health

Find out what women really need.

advertisement
advertisement
Use Pill Finder Find it Now See Interactions

Pill Identifier on RxList

  • quick, easy,
    pill identification

Find a Local Pharmacy

  • including 24 hour, pharmacies

Interaction Checker

  • Check potential drug interactions
Search the Medical Dictionary for Health Definitions & Medical Abbreviations