What is Nail-Patella Syndrome?

Nail-patella syndrome (also called Fong Disease, Hereditary Onycho-Osteodysplasia (H.O.O.D.), Iliac Horn Disease, Turner-Kieser Syndrome, Osteo-Onychodysplasia, and Arthro-Onychodysplasia) is a rare hereditary connective tissue disorder that results in abnormalities of the kidneys, bones, joints, and fingernails.
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The gene that causes Nail-Patella Syndrome is dominant. Nail-patella syndrome is inherited in an autosomal dominant manner. This means that possession of only one copy of the defective gene is enough to cause disease. When a parent has nail-patella syndrome each of their children has a 50% chance to inherit the disease-causing mutation.

It is caused by mutations in a gene known as LIM Homeobox Transcription Factor 1-Beta (LMX1B), located on the long arm of chromosome 9. The LMX1B gene codes for a protein that is important in organizing embryonic limb development.

The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). The lunulae, or light-colored crescent moons, at the base of the fingernail bed next to the cuticle are sometimes triangularly-shaped in people with nail-patella syndrome. Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease.

Less common medical findings include defects of the upper lip, the roof of the mouth, and unusual skeletal abnormalities. Skeletal abnormalities may include poorly developed scapulae (shoulder blades), sideways bent fingers (clinodactyly), clubfoot, scoliosis, and unusual neck bones. There are also other effects, such as thickening of the basement membrane in the skin and of the tiny clusters of capillaries (glomeruli) in the kidney. 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. Patients may also have cataracts, drooping eyelids (ptosis ), or corneal problems such as glaucoma.

About 30% to 40% of people with this syndrome have blood or protein in their urine, which may prompt the doctor to order kidney function tests. Kidney failure eventually develops in about 30% of the people with affected kidneys by the time they are 50 or 60. The diagnosis is confirmed by bone x-rays and a biopsy of kidney tissue.

There is no effective treatment for this syndrome. Controlling blood pressure may slow the rate that kidney function deteriorates. Those who develop kidney failure need dialysis or a kidney transplant.

Genetic testing is usually offered to people who want to have children.

Source Website: http://www.encyclopedia.com/topic/Nail- ... drome.aspx
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