Saturday, May 12, 2012

Robinow Syndrome


Robinow syndrome is an exceedingly rare condition which may be transmitted as an autosomal dominant or recessive condition.   Patients are short stature with the forearm segments classically most notably short (mesomelia).  The fingers and toes are also short (brachydactyly) and may be curved as well (clinodactyly).   There are classically spinal malformations, craniofacial anomalies, and abnormalities of the genitourinary system.

From a hand care perspective, there may be surgeries that can be done for the patient to help with function, primarily addressing the short fingers and thumb with limited motion.
Characteristic appearance of a patient with Robinow syndrome.  Note also the short fingers and thumb.

Hand in Robinow.  Note appearance of polydactyly
of the thumb.
Short fingers in Robinow syndrome.
Post surgery in Robinow syndrome.  Additional bone and finger nail have been excised.
The space between the thumb and index finger has also been widened.

Resources
ghr.nlm.nih.gov/condition/robinow-syndrome
www.robinow.org/
www.ncbi.nlm.nih.gov/books/NBK1240/
www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract

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