Osebold-Remondini syndrome

Osebold-Remondini syndrome is a rare condition that affects the bones. It is characterized by shortened bones in the middle parts of the fingers (brachymesophalangy), short limbs (mesomelic short limbs), and abnormalities in the wrist (carpal) and ankle (tarsal) bones. People with this condition are generally of slightly short stature but have normal intelligence. The syndrome has been observed in a family with seven affected members spanning three generations, suggesting that it can be passed from one generation to the next in an autosomal dominant manner. This means that only one copy of the altered gene may be enough to cause the condition, although detailed genetic information is limited.

Common features of Osebold-Remondini syndrome include short stature, brachymesophalangy (short bones in the fingers), and unusual development of the wrist and ankle bones. Other specific symptoms are not well documented due to the rarity of the condition.

The cause of Osebold-Remondini syndrome appears to be genetic, with the condition following an autosomal dominant pattern. This means that the condition can be inherited if one copy of the gene associated with the syndrome is passed from a parent to a child. Detailed gene information remains limited.

Information about treatment is currently limited for this condition.

People with Osebold-Remondini syndrome generally have normal intelligence and lead active lives. However, detailed long-term outlook and quality of life information is currently limited due to the rarity of the condition.

Information about current research and future directions is currently limited for this condition.