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.
No comments:
Post a Comment