Nail Patella Syndrome
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NORD is very grateful to Brendan Lee, MD, PhD, and Soledad Kleppe, MD, of the Department of Molecular and Human Genetics at Baylor College of Medicine, for assistance in the preparation of this report.
Synonyms of Nail Patella Syndrome
- Fong Disease
- Hereditary Onychoosteodysplasia (HOOD)
- Turner-Kieser Syndrome
- No subdivisions found.
Nail-patella syndrome (NPS) is a rare genetic disorder that is usually apparent at birth or during early childhood. Although the symptoms and physical characteristics associated with NPS may vary, characteristic abnormalities tend to include improper development (dysplasia) of the fingernails and toenails; absence (aplasia) and/or underdevelopment (hypoplasia) of the knee caps (patellae); underdevelopment of certain bones and/or webbing of skin at the bend of the elbow(s); and/or abnormal projections of bone from the upper (superior) portion of both sides of the hipbone (bilateral iliac horns).
In addition, some individuals within certain families (kindreds) may have abnormally increased fluid pressure of the eyes (glaucoma). The condition results due to progressive blockage of the outflow of fluid (aqueous humor) from the front chamber of the eyes (open-angle glaucoma). Without appropriate treatment, the gradual increase in fluid pressure may cause increased narrowing of visual fields and eventual blindness. Other eye (ocular) abnormalities may also be associated with NPS. For example, in some affected individuals, the inner margin (pupillary margin) of the colored portion of the eyes (irides) may appear abnormally dark (hyperpigmentation) and "cloverleaf shaped" (Lester iris).
Approximately 30 to 40 percent of individuals with NPS may also develop abnormalities in kidney function (nephropathy) that may be apparent during childhood or later in life. Nail-patella Syndrome is inherited as an autosomal dominant trait.
Organizations related to Nail Patella Syndrome
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., bone abnormalities, kidney disease etc.].)
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