Stocco dos Santos syndrome (SDSX) is a rare condition that begins in childhood. A person with SDSX will have severe intellectual disability, aggressive behavior, and hyperactivity. They may fidget, be jumpy, have trouble sitting still and being quiet, or act violent and angry.
Someone who has SDSX will have hip luxation; the top of the femur (leg bone) comes out of the hip socket. A person with SDSX will have a back that rounds forward, known as kyphosis, and short stature (height).
People with SDSX will have frequent lung infections, causing them to cough, sneeze, have a scratchy or sore throat, have a headache, and have trouble breathing. SDSX may cause epileptic seizures. When a person has an epileptic seizure, they will uncontrollably move their arms and legs for a few minutes. The person will not remember what happened during the epileptic seizure.
SDSX is passed down from parents to children. Genes are sections of DNA, that act as our body’s instruction manual. DNA is wound up tightly into structures called chromosomes. Males have an X and a Y chromosome. Females have two X chromosomes. The gene associated with SDSX is called SHROOM4, and it is located on the X chromosome. SDSX is inherited in an X-linked recessive pattern. This means that a female needs both of her X chromosomes to have a mutated (changed) SDSX gene in order to have SDSX. Females who have one changed SDSX gene will not have the disease. They are carriers and typically do not have symptoms. Because males only have one X chromosome, they will have SDSX if their X chromosome has the changed SDSX gene.
The cause for the symptoms of SDSX is unknown. If you or a family member has been diagnosed with SDSX talk to your doctor about the most current treatment options. Support groups are also good sources of support and information.