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Nail Patella Syndrome

Page history last edited by bnewman@... 16 years ago

Description:
    Nail-patella syndrome is also known as Fong Disease, Hereditary Onycho-Osteodyplasia (H.O.O.D), Iliac Horn Disease, and Turner-Kieser syndrome. Nail-patella syndrome causes many physical defects including, poorly developed fingernails, toenails, and patellae (kneecaps). Other defects include elbow abnormalities, abnormal shaped pelvis bone, and kidney disease. Some other less common medical findings include unusual skeletal abnormalities, defects of the upper lip, and defects of the roof of the mouth. The skeletal abnormalities include poorly developed scapulae, sideways bent fingers (clinodactyly), clubfoot, scoliosis, and unusual neck bones. Nail-patella syndrome can also cause thickening of the basement membrane in the skin and of the tiny clusters of capillaries (glomeruli) in the kidney. Nail-patella syndrome is different than colon cancer as nail-patella syndrome is associated with open-angle glaucoma (which if untreated can lead to blindness). Some people with nail-patella syndrome will only display a few of the recognized characteristics of the diseases (listed above) while others will display many of them. Approximately 1 in 50,000 births have nail-patella syndrome, and it affects males and females equally. Nail-patella syndrome occurs in all ethnic groups and can be found throughout the world.

Causes and Symptoms:
       Nail-patella syndrome has been recognized as an inherited disorder. It is caused by mutations in a gene known as LIM Homeobox Transcription Factor 1-Beta (LMX1B), which is located on the long arm of the ninth chromosome. The LMX1B gene codes for a protein that is important in organizing embryonic limb development. Nail-patella syndrome is inherited in an autosmal dominant manner, which is why children who have parent with nail-patella syndrome have a 50% chance of receiving the disorder as well. There is also another way to receive nail-patella syndrome. A mutation can cause nail-patella syndrome, causing disease in a person without parents who have the disease. This method of receiving the syndrome accounts for approximately 20% of the cases and is called a sporadic occurrence. Children who parents with sporadic nail-patella syndrome have a 50% chance of developing signs of the disorder.
      Medical signs of nail-patella syndrome vary widely between patients because some people are affected physically while others are not. Some patients do not show any symptoms of the disease and are found to have the disease through family history. Scientists are working in order to figure out what causes some people to display symptoms of nail-patella syndrome and others not to. The most blatant sign that occurs with nail-patella syndrome, occurring with 80% of the patients is absent, poorly developed, or unusual fingernails. This disease usually affects the fingernails of the thumbs and index fingers and rarely affects the pinky fingernail. Sometimes nail-patella syndrome can cause the lunulae at the base of the fingernail to be triangularly shaped.
      Kneecap abnormalities are the second most common sign associated with nail-patella syndrome. Kneecaps can be missing or poorly formed. If the kneecaps are present they bontend to be dislocated. Nail-patella syndrome may cause knees to have a square appearance and bones, ligaments, and tendons to be malformed. These knee abnormalities cause the patient difficulty in walking.
      80% of patients with nail-patella syndrome have hipbones have unusual bony projections called posterior iliac horns. These posterior iliac horns only show up on x-ray and are not associated with any other disease.
        Kidney failure is the most serious consequence of nail-patella syndrome. 30% of patients with nail-patella syndrome have kidney disease. An early sign of kidney failure is the presence of protein or blood in the urine. Kidney disease is progressive, which makes early diagnosis and treatment of renal disease important. Kidney disease occurs in children and adults while renal disease occurs mostly commonly in adults.
        Nail-patella can cause patients not to be able to fully straighten their arms at the elbow creating a webbed appearance at the elbow child. Patients may also develop sideways bent fingers, poorly developed shoulder blades, clubfoot, hip dislocation, unusual neck bones, or scoliosis.
      Patients with nail-patella syndrome may also experience eye problems, which vary from person to person. Open angle glaucoma is one of the eye problems associated with nail-patella syndrome. Open angle glaucoma is caused by fluid blocked in the front chamber of the eye, which causes pressure into the eye. If open angle glaucoma is untreated, it may lead to permanent damage of the optic nerve and blindness. Other patients with nail-patella syndrome may have ptosis, or drooping eyelids. Nail-patella syndrome may also cause abnormalities of the cornea, cataracts, astigmatism, and multicolored irises that may display a clover-shaped pattern of color.

Treatment:

In most cases, treatment for Nail-Platella Syndrome is not a necessity. In cases of severe renal failure, the patient may be put on dialysis or have a kidney transplant. 30% of the patients who have Nail Patella Syndrome have reinal failure, eight percent of diagnosed these patients die of it. If the patient choses to receive a transplant, the new kidney will not be affected by Nail Platella Syndrome. On the other hand, if bone or muscle defects or deformalites occur and walking or physical activity becomes painful, then a wheelchair might be necessary. Orthopedic surgury is another option, and besides the risks of surgury, is the best traetment depending on the patient's condition.

As for cataracts and glaucoma, surgery is once again a possibility. It is essential that thec patient receives surgury in the early stages of glaucoma so that blindness and eye problems can be avoided.

Some problems in nail platella syndrome such as hypertension, dental issues, and constipation are treated the same way that they are with everyone else, usually through standard ways. Hypertension can be trated by medicines such as Norvask, Attenolol, Hydrochlorothyozide, or any such drugs. Dental issues can be treated with orthodontics or dental sugury. Constipation can be trreated with laccadives.

Diagnosis:

Even though this disease is genetic, genetic testing will not determine whether a child has Nail Patella Syndrome or not. This syndrome is Autosomal dominalnt, so at leasst one parent must have the syndrome to be able to pass it onto the son. It is linked to either the A, B, AB, or O blood groups. Nail Patella Syndrome can usually be diagnosed with the naked eye, because there are obvious bone structure and nail deformalities. Pelvic bone mutations found in 80% of Nail Patella patients are not associated with any other disease. X-Rays are also used to prove bone structure deformalities. As for the kidneys, a biopsy is performed. Chorionic Villus Sampling is used to determine wether the baby will have it before it is born, but these tests are not always correct. The nails, especially those on the thumbs, are typically absent or short and never reach the free edge of the finger. Nail dysplasia occurs in most fingers, but not usually the toes. Below is an extreme case of NPS, where even the toes are severely affected. Some other nail abnormalities in patients with NPS include splitting, longitudinal ridging, and discoloration.

A Case: Here there are deformalities in the bone structure in the toes, as well as the nails, which are not fully developed. Carol Ferensak is an NPS patient. Fifty percent of the females in her family have the syndrome, including her mother. The males in the family do not tend to have it as much, it is mainly on the maternal side of the family. However, in most cases NPS effects both males and females equally because it is an autosomal dominant diesease.

Prognosis:

Most NPS patients have a normal lifespan. Eight to ten percent of the patients die of renal failure, and his can ocur at any time with an NPS patient, unlike in most people where it occurs in the later years of his or her life. Overall, patients lifespan is expected to be normal unless they show renal problems.