Nail patella syndrome

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Nail patella syndrome (NPS), also called Fong's disease, hereditary onycho-osteodysplasia (HOOD), and Turner-Kieser syndrome, is a genetic disorder that causes physical abnormalities of the bones, joints, fingernails, kidneys, and eyes. It is generally characterized by absent or underdeveloped kneecaps and nails (particularly the thumbnails).
The symptoms of NPS vary considerably among patients. Some may only be mildly affected, while others may need to use a wheelchair or may develop kidney disease.
Although NPS is a genetic disorder, not all cases are inherited, or passed down from family members. About 20% of cases occur when the LIM-homeodomain(LMX1B) gene randomly mutates during the development of the egg, sperm, or embryo. Researchers estimate that about one person out of 50,000 is born with NPS worldwide. The disorder can affect anyone, regardless of age, sex, race, or ethnicity.
Currently, there is no cure for NPS. However, treatment is available to manage symptoms and to help prevent complications. Specific treatments depend on the person's individual symptoms. The life expectancy of a person with NPS is usually only affected if kidney disease develops. An estimated 8% of people with NPS die from kidney-related complications.

Related Terms

Autosomal dominant trait, clubfoot, Fong's disease, glaucoma, hereditary onycho-osteodysplasia, HOOD, iliac horns, kidney disease, LIM-homeodomain gene, LMX1B gene, lordosis, proteinuria, scoliosis, swayback, talipes, Turner-Kieser syndrome.