Thursday, October 27, 2011

Robinow Syndrome

Robinow Syndrome is another rare disorder that affects the skeletal development and many other parts of the body.  It is extremely generic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia.  There are two tpes of Robinow syndrome, which are distinguished by the severity of their symptoms and signs and by their patters of inheritance. 

The first type is Autosomal recessive Robinow syndrome which is characterized by skeletal abnormalties including the shortening of the long bones in the arms and legs, particularly in the forearms; abnormally short fingers and toes; wedge-shaped spin bones; missing ribs; short stature; and distinctive facial feature.  The second type is Autosomal dominant Robinow syndrome which has similar symptoms but tend to be milder than those of the recessive from. Abnormalities of the spine and ribs are rarely seen in the dominany form and this form is less frequent to have.

Medican conditions include frequent ear infections, hearing loss, hypotonia, developmental problems, respiratory problems, eating difficulties, light sensitivity, and esophageal reflux.  It has been that both male and female patients have had children with this rare disease.  Robinow syndrome is so rare that fewer thatn 200 are affected and reported worldwide.

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