Tibia absent polydactyly arachnoid cyst
Type of disease: Rare conditions
Tibia absent polydactyly arachnoid cyst is a very rare genetic condition that has multiple abnormalities. The primary symptom of this condition is not having a shinbone (tibia) or having the shinbone be underdeveloped and not a typical size. The individual may be missing fingers and toes. His or her fingers and toes may extend into another finger or be fused together. Other long bones in the body, such as those of the arms and legs, may also be shortened or underdeveloped.
The fluid surrounding the brain is filled with different cells and a protein substance called collagen. An individual with tibia absent polydactyly arachnoid cyst may have an abnormal structure or mass in this area on the back part of the brain. This is called a retrocerebellar arachnoid cyst. The cyst is normally fluid-filled.
Tibia absent polydactyly arachnoid cyst is an autosomal recessive disease. This means both parents of the individual must pass down a changed (mutated) gene to their child in order for the child to have the condition. A person with one copy of the changed gene is a carrier of tibia absent polydactyly arachnoid cyst. Carriers usually do not show symptoms of the condition. If both parents are carriers of tibia absent polydactyly arachnoid cyst, there is a one in four (25%) chance that their children will have the condition. This condition has been reported in one family, with one female and two males siblings having the condition. Their parents were related by blood.
If you or a family member has been diagnosed with tibia absent polydactyly arachnoid cyst, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.