INFORMATION ON SOTOS SYNDROME

Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life. The disorder may be accompanied by mild mental retardation, delayed motor, cognitive, and social development, hypotonia, and speech impairments. People with Sotos syndrome often have intellectual impairment, and most also have behavioral problems. Frequent behavioral issues include attention deficit hyperactivity disorder, phobias, obsessions and compulsions, tantrums, and impulsive behaviors. Sotos syndrome is associated with neonatal jaundice, scoliosis, seizures, strabismus, conductive hearing loss, congenital cardiac anomalies, renal anomalies, and behavioral problems. The risk of sacrococcygeal teratoma and neuroblastoma is slightly increased.

SYNONYMS OF SOTOS SYNDROME

Synonyms and related keywords:-

1. Cerebral Gigantism
2. Juvenile glaucoma
3. Vision loss
4. Visual deficit
5. Juvenile-onset open-angle glaucoma
6. Childhood glaucoma, myopia

CAUSES OF SOTOS SYNDROME

Nuclear Receptor Set-domain containing protein-1 mutations are the major cause of Sotos syndrome.

SYMPTOMS OF SOTOS SYNDROME

Symptoms can be seen:-

Newborns are large with respect to length and head circumference; weight is usually average.

Respiratory and feeding problems may develop in the neonatal period.
Infants have a round face with prominent forehead and small chin.
Hypotonia is present at birth. This affects the development of fine and gross motor skills, and developmental milestones are usually delayed.
Speech is also affected by hypotonia but as the child grows older and the hypotonia resolves or goes away, speech improves.
Intellect typically is borderline to normal.
Behavioral problems and emotional immaturity are commonly reported.
Dental problems such as early eruption of teeth, excessive wear, discoloration, and gingivitis are common.

DIAGNOSIS OF SOTOS SYNDROME

No specific specialized laboratory tests that can be conducted to definitively diagnose Sotos syndrome. Bone age can be determined with an x-ray of the child’s wrist. The diagnosis is typically made through the observation of a number of physical characteristics including bone age, facial features, muscle tone and developmental delays.

TREATMENT OF SOTOS SYNDROME

There is no standard course of treatment for Sotos syndrome. Treatment is symptomatic.