Wednesday, 11 July 2012

Nail Patella Syndrome Diseases

Nail Patella Syndrome 
Nail Patella Syndrome is a rare genetic disorder involving nail and skeletal deformities (among a host of other related anomalies) that occurs in approximately 2.2 out of every 100,000 people. It is transmitted as a simple autosomal dominant characteristic in the ABO blood group (Autosomal dominant means that you only have to inherit one copy of the gene to get it). It also means that there is no such thing as an unaffected carrier, and NPS CAN NOT skip a generation.
In cases where there seems to be no previous family history of NPS, it is thought to be caused by a sporadic gene mutation (which is probably how it began in all families at one time or another). Once NPS is in a family, the risk of transmitting the disorder from parent to offspring is 50% for each pregnancy, regardless of the sex of the child, with females being affected approximately 10% more often.

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