Nail-patella syndrome is also known as Fong Disease, Hereditary Onycho-Osteodysplasia (H.O.O.D.), Iliac Horn Disease, and Turner-Kieser syndrome. Patients who have nail-patella syndrome may show a variety of physical defects. Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease.
Scientists have recognized an association between nail-patella syndrome and colon cancer. Nail-patella syndrome is associated with open-angle glaucoma, which, if untreated, may lead to blindness. People with nail-patella syndrome may display only a few or many of the recognized signs of this disease. The incidence of nail-patella syndrome is approximately one in 50,000 births. The strongest risk factor for nail-patella syndrome is a family history of the disease.
Nail-patella syndrome has been recognized as an inherited disorder for over 100 years. Mutations in this gene have been detected in many unrelated people with nail-patella syndrome. Nail-patella syndrome is inherited in an autosomal dominant manner. A new mutation causing nail-patella syndrome can also occur, causing disease in a person with no family history. Medical signs of nail-patella syndrome vary widely between patients. The most obvious sign associated with nail-patella syndrome is absent, poorly developed, or unusual fingernails. The knees of people with nail-patella syndrome may have a square appearance. The hip bones of approximately 80% of patients with nail-patella syndrome have unusual bony projections called posterior iliac horns. Kidney disease is present in at least 30% of people with nail-patella syndrome. Kidney failure is the most dangerous consequence of nail-patella syndrome. Kidney disease has been reported in children with nail-patella syndrome, but renal involvement more commonly develops during adulthood.
Nail-patella syndrome is associated with open angle glaucoma. Some patients with nail-patella syndrome have ptosis, or drooping eyelids. Nail-patella syndrome has also been associated with abnormalities of the cornea, cataracts, and astigmatism. In rare cases, the Nail Patella Syndrome causes eye pain, severe headaches and nausea.
Families with NPS risk factor may benefit from prenatal diagnosis of Nail Patella Syndrome or genetic counseling. Nail Patella Syndrome is also known as NPS, Fong Disease, Onychoosteodysplasia, Turner-Kieser Syndrome, Iliac Horn Syndrome, Hereditary Onychoosteodysplasia or simply HOOD. Nail patella syndrome, is a genetic disease of the connective tissue that produces defects in the fingernails, knee caps, and kidneys. The hallmark features of Nail Patellasyndrome are poorly developed fingernails, toenails, and patellae (kneecaps). The incidence of nail-patella syndrome is approximately one in 50,000 births.Nail-patella syndrome has been recognized as an inherited disorder for over 100 years.
Some of the common symptoms of Nail Patella Syndrome are:
* The most obvious sign associated with nail-patella syndrome is absent, poorly developed, or unusual fingernails.
* The knees of people with nail-patella syndrome may have a square appearance.