What does TBS mean in SYNDROMES

The exact cause of Tiny Ball Syndrome is unknown at this time, however; it appears to be an inherited genetic mutation that affects the way that specific proteins interact with each other in cells. Mutations in various different genes have been linked to Tiny Ball Syndrome, including MAPK3, RUNX2 and PIK3R1.

Symptoms associated with Tiny Ball Syndrome can range from mild to severe. Common symptoms include early developmental delays, difficulties with movement, muscle weakness or stiffness, facial deformities such as small mandible or micrognathia (short chin), low set ears, scoliosis (curvature of spine), and seizures or epilepsy. Additional symptoms may include hearing or vision loss, learning disabilities and intellectual disability. Q3: Is there a treatment for Tiny Ball Syndrome? A3: Currently there is no cure for Tiny Ball Syndrome. However treatment options do exist which aim to minimise disability and maximise quality of life for those affected by TBS. These treatments might involve physical therapies such as physiotherapy or occupational therapy as well as nutritional support. Medications might also be prescribed to help control any seizure activity or reduce muscle stiffness. Additionally specialised surgeries such as bone lengthening procedures can help improve mobility in those affected by TBS. Q4: How common is Tiny Ball Syndrome? A4: Tiny Ball Syndrome is extremely rare and estimated to occur in only 1 out of every million births worldwide according to medical studies conducted on this condition. It has been found mainly among children from European descent although cases have been reported from all over the world regardless of race or ethnicity.