Definition:
The nail-patella syndrome (NPS) is a genetic disorder inherited through autosomal dominant pattern. This condition is also popularly known as Iliac Horn Syndrome, Hereditary Onychoostedysplasia, Fong Disease or Turner-Kiser Syndrome.
Diagnosis:
Genetic prenatal testing for NPS is currently available only through clinical research focused on this disorder. Even in the context of research, genetic tests cannot specifically pinpoint the signs of the disease, nor gauge the severity of its symptoms. Improved genetic studies are expected in the succeeding years.
To date, visual clinical signs of characteristic defects are used in diagnosis. Abnormalities in fingernails and kneecaps are often benchmark medical cues. To confirm NPS diagnosis, x-ray images are often taken of the affected bones. When necessary, a kidney biopsy is conducted.
Treatment:
For nail-patella syndrome affected individuals, there is often no need for treatment. But if required, therapy is usually dependent on the patient's symptoms. When severe kidney complications develop, dialysis or even a kidney transplant may be necessitated.
Symptoms and Signs:
Visible tell-tale signs of this genetic defect include poorly-developed fingernails, toenails, and kneecaps (patellae). In some cases, affected individuals may have no thumbnails at all, or have only a tiny piece of thumbnail on the thumb's edge.
NPS may also manifest through such abnormalities as deformed elbows, oddly shaped pelvis, and renal (kidney) disease. Recent studies also indicate that NPS affected people are more susceptible to scoliosis and glaucoma as a result of ill developed spines.
Although symptoms may vary greatly, affected individuals tend to demonstrate only a few of the known symptoms.
Causes:
The nail-patella syndrome is often correlated to an aberrancy or mutation of the q arm (i.e. longer arm) of the human chromosome 9, 9q34.
It is inherited via autosomal dominancy, which means that only one copy (instead of the entire pair) is sufficient for the condition to be passed on to the offspring. In other words, the chance of this disorder being inherited from an affected parent is fifty percent (50%).
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