What is Sotos Syndrome?
Excerpts from: "Sotos Syndrome: A Handbook for Families"
- by
-
Rebecca Rae Anderson, M.S., J.D.
Bruce A. Buehler, M.D.
(This handbook is an excellent (really excellent!!!) resource for professionals and parents, alike. We encourage you to order copies not only for yourself, but also as an information source for your school, your library, your relatives, and even your doctor
Sotos Syndrome, also known as cerebral gigantism because of the distinctive head shape and size, is a genetic condition causing physical overgrowth during the first years of life. Ironically, this rapid physical development is often accompanied by delayed motor, cognitive and social development. Muscle tone is low, and speech is markedly impaired.
Children with Sotos Syndrome are often taller, heavier, and have larger heads than their peers. A child who looks older and acts younger than his/her peer group is at risk for poor self-esteem, strained peer and family relationships, and problems in school. Fortunately, in late childhood the gap begins to close. Muscle tone improves steadily and with it comes better speech. For many individuals, Sotos Syndrome simply alters developmental timing; despite early trends, the adult with Sotos Syndrome is likely to be within the normal range of height and intellect.
Many genetic conditions are obvious at birth, and a clear-cut diagnosis can be made with specialized laboratory tests. Sotos Syndrome is not among them. Rather, the diagnosis of Sotos Syndrome is frequently made months or even years following the birth of a child, after a slow process of wondering whether anything is amiss, listening to vague reassurances or equally vague gloomy projections, cherishing every sign of "normality," and secretly fearing something devastating is about to happen.
Some more technical details from OMIM - Online Mendelian Inheritance in Man
Stats and Descriptors from the Pediatric Database (PEDBASE) Homepage
Typical characteristics of Sotos Syndrome:
-
Growth
- Rapid growth is common during the first five years of life. Thereafter growth continues to parallel the 97th percentile or above. Head circumference has been documented well above the 98th percentile.
Birth
- The presence of a high arched palate (roof of the mouth is narrow and arched upward), poor suck, and low muscle tone often produces feeding problems. Jaundice occurs frequently.
Craniofacial
- Facial features include a large head with a tall, narrow skull, wide set downslanting eyes, flat-bridged nose, early eruption of teeth (as early as 3 months of age), thin hair pointed chin, prominent forehead, and "receding hairline".
Skeleton
- An advanced bone age (the bones grow and mature faster than expected for the child's chronological age) is common. The hands and feet may be large in comparison with the rest of the body. Flat or pronated (collapsed inward) feet are common, and scoliosis may develop.
Development
- Motor delays are common due to hypotonia. Prolonged drooling and mouth breathing may be present due to poor tone of facial muscles. Delays in gross and fine motor movement are marked in early childhood and improve in the school years. Coordination problems may persist into adulthood. Receptive language (understanding others) tends to be more advanced than expressive language (formation of words), setting the stage for frustration. The child may whine or scream to demonstrate desires or emotions. Older children seem to develop competence and normal speech patterns. Borderline to average intelligence is expected, with learning deficits noted in language, math, and socialization. Intellectual, social, and emotional maturity may evolve on widely different timetables.
Other Features
- Any of these may or may not be present:
- Behavioral patterns including phobias, aggression, obsessions, adherence to routine, autistic-like behavior, attention deficit disorder, above-average memorization skills.
- Enlarged ventricles of the brain, hydrocephalus (rare), abnormal EEG's and seizures (with at least 1/3 of seizures being fever-related).
- Frequent ear infections and upper respitory infections, asthma, and allergies.
- Constipation, megacolon.
- Delayed toilet training, urogenital anomalies.
- Congenital heart anomalies.
- Nystagmus, strabismus.
- Increased sweating.
- Hyperthyroidism, hypothyroidism.
- Possible increased risk of tumors.
Early Intervention Programs
Programs such as infant stimulation, occupational therapy, physical therapy, speech therapy, and adaptive physical education play a significant role in the nurturing of a child with Sotos Syndrome. In a structured environment, the child is able to practice necessary skills without excessive distractions. Alternative strategies for effective movement and communication can give a child additional mobility and the language to encourage self-help skills. As with any child, self-esteem in a child with Sotos Syndrome is bolstered by successful completion of tasks and mastery of developmental skills.
Other Syndromes and Disorders
These syndromes or disorders should be considered because of shared physical features:
Home
Back