| Nail-patella syndrome (NPS) is a genetic disorder | | | | Iliac horns are very common in people with |
| that is also known as Iliac Horn Syndrome. | | | | nail-patella syndrome and are rarely, if ever, seen |
| Nail-patella syndrome is a connective tissue that | | | | in people without this condition.Various skeletal |
| produces defects in the fingernails, knee caps, and | | | | symptoms may occur. Other areas of the body |
| kidneys. It is caused by mutations in a gene | | | | may also be affected in nail-patella syndrome, |
| known as LIM Homeobox Transcription Factor | | | | particularly the eyes and kidneys. Some people |
| 1-Beta (LMX1B), located on the long arm of | | | | develop kidney disease, which can progress to |
| chromosome 9. Nail abnormalities are seen in | | | | kidney failure. Kidney failure is the most dangerous |
| almost all individuals with nail-patella syndrome. The | | | | consequence of nail-patella syndrome. It occurs in |
| nails may be absent or underdeveloped and | | | | about 30% of patients who have kidney |
| discolored, split, ridged, or pitted. The fingernails | | | | involvement. Eye problems may be present and |
| are more likely to be affected than the toenails, | | | | vary from person to person. Nail-patella syndrome |
| and the thumbnails are usually the most severely | | | | is associated with open angle glaucoma. |
| affected. | | | | Treatment is usually not necessary. Treatment, |
| In many people with this condition, the areas at | | | | when required, depends on each patient's specific |
| the base of the nails (lunulae) are triangular instead | | | | symptoms. Severe kidney disease is treated with |
| of the usual crescent shape. Some people with | | | | dialysis or a kidney transplant. Renal |
| this condition may not be capable to fully expand | | | | transplantation has proven successful in patients |
| their arms or turn their palms up while keeping | | | | with nail-patella syndrome (NPS) who develop |
| their elbows straight. The elbows may also be | | | | ESRD. A wheelchair may be required if walking |
| angled outward (cubitus valgus) or have abnormal | | | | becomes painful due to bone, tendon, ligament, or |
| webbing. Many individuals with nail-patella | | | | muscle defects. Genetic counselling should be |
| syndrome have horn-like outgrowths of the iliac | | | | offered to all individuals with NPS. Orthopedic |
| bones of the pelvis (iliac horns). These abnormal | | | | surgery may be necessary for congenital clubfoot |
| projections may be felt through the skin, but they | | | | deformity. Manipulation or surgery may be |
| do not cause any symptoms and are usually | | | | required to correct hip dislocation. Cataracts are |
| detected on a pelvic x-ray. | | | | also surgically treated. |