Nail Patella
Syndrome
You may be wondering why I have decided to
include this subject on my web page, and the reason is, My wife and 2 children
have Nail Patella syndrome, and another rare genetic disorder called Hereditary Motor
and sensory neuropathy. Below is a brief
description on what the disorder is, and a couple of links to some very useful
information concerning NPS.
About Nail Patella
Syndrome
Nail Patella Syndrome is a rare genetic disorder involving deformities of the
nails, bones and sometimes, kidneys. It is transmitted as a simple autosomal
dominant characteristic in the AB blood group. The gene for NPS is located on
Chromosome 9q34. Classic manifestations include the absence or underdevelopment
of finger and toe nails, especially the thumbnails. The skin on the hands and
fingers is often "wrinkled" and loose, but sometimes smooth over the
distal joint. NPS also often includes deformities of the knee joint (giving the
knee a "square" look) and absence or hypoplasia of the kneecaps
(patella).
The pelvic bone may also have iliac
"horns" or "spurs" which are internal and are generally
only detected by x-rays Deformities of the elbows are also often present. The
dislocation of the joint causes the angle of the elbow to be "bent".
Kidney problems can also be associated with NPS. It was originally thought that
kidney disfunction was present in about half of all NPS cases, but it has been
shown in later studies, that only about 10% are affected, and they are not
usually serious problems.
There are a number of other anomalies that may
also be associated with Nail Patella Syndrome, including foot (clubfeet) and
leg deformities, back problems including scoliosis and/or lordosis, eye
problems such as glaucoma, cataracts and abnormal pigmentation of the iris'.
There may also be a connection between other disorders such as cleft lip and
palate, spina bifida, colon cancer and toxemia of pregnancy as well as many
others. The risk of transmitting the disorder from affected parent to offspring
is 50% for each pregnancy, regardless of the sex of the child, with females
being affected approximately 10% more often. Other names for Nail-Patella
Syndrome include NPS, Iliac Horn Syndrome, Hereditary Onychoosteodysplasia,
Fong Disease and Turner-Kieser Syndrome.
Click Here to go to Carol's NPS Site
Click Here to go to Alan's NPS Site
Click Here for a Medical Journal article about NPS
