Sotos syndrome is a rare disorder. It is also sometimes called cerebral gigantism. Patients with this disorder experience an abnormally high growth rate in early childhood. During these very young years, the patient's head size is also disproportionately larger than usual.
Symptoms of Sotos syndrome are often both physical and mental. Physical characteristics of patients in can include a narrow, long face with a small and pointed chin. The eyes may point downward on the outside corners, and the cheeks may often be flushed, or reddened. Affected children usually grow faster than usual, however, adults with Sotos syndrome are usually not excessively tall.
Patients may also have curvature of the spine, also known as scoliosis, as well as kidney and heart defects. Some patients suffer from seizures, while others may have hearing loss and problems with their vision. Infants with the disorder may suffer from a poor appetite. They may also have jaundice, or a yellowing of the whites of the eyes and skin. Sotos syndrome can also cause delayed development due to a weak muscle tone, also called hypotonia.
Intellectual impairment is often associated with this disorder. Patients may be more prone toward behavioral problems and attention deficit hyperactivity disorder (ADHD). They may experience compulsions, tantrums, and phobias, as well as impulsive behaviors. Children with this condition may suffer from problems with language and speech.
Sotos syndrome is an inherited disorder. It is caused when the NSD1 gene is mutated. A family history of the disorder is not necessarily the cause, as most cases occur due to new mutations that have not previously affected family members.
Unlike many genetic disorders, Sotos syndrome is not always diagnosed soon after birth. Parents who suspect that their child is not developing normally should raise their concerns with a pediatrician. Diagnosis of this disorder typically includes a complete physical examination, which also involves measuring the head. A doctor may also request a chromosome analysis.
No cure exists for Sotos syndrome, and there are no standard treatment guidelines. The only treatment available is intended to help the patient cope with the symptoms. Children may be measured frequently to chart their growth. They should have regularly scheduled dental and eye screenings, and may also be tested for other potential problems, such as tumors or congenital heart defects.
Children who have speech difficulties may improve with the help of a speech therapist. A physical therapist may help improve the child’s muscle tone. Parents may take their child to a behavioral specialist to assist with psychological and behavioral problems.
As a person with Sotos syndrome grows into an adult, he can expect to stay within the normal height range. He will also not likely suffer from lasting intellectual obstacles. The prognosis for this syndrome is generally favorable, and it is not known to cause a shortened lifespan.
