Genitopatellar Syndrome

In recent years there has been a rise in a new genetic disorder. The symptoms of the disorder are: an absence of a kneecap, a small scrotum, abnormal kidneys, facial defects, club feet, and mental retardation. A study was conducted on six boys and one girl of five different families. Two of the seven children were aborted with knowing their children had the syndrome. Three of the children did not survive but just a few years during adolescence and two of the children lived but suffered severe mental delay.

One of the main features from this condition is altered facial features. Those with the disorder often have a large, broad nose with a high nasal bridge. A small jaw bone is often noticed along with skewed facial features. The smaller jaw bone can be attributed to a smaller sized head.

There are numerous physical abnormalities that are displayed with the disorder. A common abnormality is the lack of a kneecap. Along with an altered knee, the children also suffered from club foot which occurs when the feet are not aligned with the body. Often times they are turned far inward until the feet would be nearly turned on their sides. One thing that can be easily noticed judging off physical attributes is that they often times have smaller hands than normal. Another physical defect is altered genitalia. In males the testicles can be shrunken to the point of little existence or the other defect is having either one or no testicles. For females, the clitoris is moved further to the front of the body and the labia or lips of the vagina are often enlarged.

The internal effects of genitopatellar syndrome vary but are often located with areas around the legs along with the physical deformity of the feet. As from the name of the disorder, those who are born with the condition are born without kneecaps. Yet the knee is not the only place for defects. Abnormalities to the hip bones can range in dislocation to proper orientation or flexion of the hips. If the children live old enough to ingest food, they often have troubles with swallowing. This disability can be attributed to hypotonia which is having low muscle tone or simply weaker muscles. Another internal effect is that of the kidneys. The children displayed dilated kidneys or are misshaped. Some of the kidneys from the patients also had cysts. Lastly, one symptom of the disorder is severe mental retardation. Of the two patients that lived beyond approximately one year, the retardation was severe enough to hinder them of independence and normal functioning.

The disorder is thought to be linked to chromosomes other than those that control sex and is recessively inherited. The parents of the children were examined to be healthy adults and did not interbreed within their family. The families were not related even though their children suffered the same effects. Genitopatellar syndrome is a crippling disorder than not only affects one physically but causes mental handicaps as well.

Cormier-Daire, Valérie. (2000). Genitopatellar syndrome: a new condition comprising absent patellae,

scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. Journal

of Medical Genetics. Volume 37, Issue 7, 520-524.

Sara Puckett