Sotos syndrome, also termed as cerebral gigantism, is an uncommon genetic disorder, which is distinguished by extraordinary physical growth in children in the first 2 to 3 years of their life. To date the majority of research around sotos syndrome has focused on physical and genetic. The risk is estimated to be 23% and includes embryonal tumors such as wilms tumor, neuroblastoma, and hepatocellular carcinoma, as well as other benign and malignant tumors including leukemia, lymphoma, and saccrococcygeal teratoma lapunzina 2005. Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability. Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life. It is characterized by excessive physical growth during the first few years of life. Children with sotos syndrome are often taller, heavier, and have larger heads than their peers. Sotos syndrome forum questions about sotos syndrome ask a question and get answers from other users. Sotos syndrome genetic and rare diseases information. Sotos syndrome is an overgrowth condition that is defined by excessive growth, distinct facial features, and difficulties in learning. Sotos1 sotos syndrome type 1 chromosome 5q35 deletion syndrome edit english sotos syndrome autosomal recessive disease that occurs. Children diagnosed with sotos syndrome have characteristic facial features, overgrowth in height, weight and head size, and delays in their motor, cognitive and social development. Sotos syndrome was first described in 1964 by juan sotos and the major diagnostic criteria of a distinctive facial appearance, childhood overgrowth and learning disability were established in 1994 by cole and sotos. Understanding behavioural characteristics in sotos syndrome the cross syndrome research project is a large scale project that is being carried out by a specialised team of researchers at the cerebra centre for neurodevelopmental disorders based at the university of birmingham uk.
Manual for administration and scorer interpretation. Pdf sotos syndrome is a congenital overgrowth disorder with an incidence of approximately 1 in 14000. Toward a behavioural phenotype of sotos syndrome vol 1. Sotos syndrome is a childhood overgrowth condition, first described in 1964 by sotos et al, though the first patient described may have been reported in 1931. Several studies have hinted at an overlap between sotos syndrome and autism 2, 3. Sotos syndrome is a rare genetic disorder characterized by excessive growth that occurs prior to and after birth prenatally and postnatally. Though sotos syndrome is probably not a significant cause of classic autism, children with sotos syndrome and behavioural problems such as difficulty. Pdf sotos syndrome is a congenital overgrowth disorder with an. She was born 4 weeks early and was 7 lbs 8 oz and had to stay in the nicu for almost 2 weeks.
Nsd1 mutations are the major cause of sotos syndrome sos and occur in some cases of weaver syndrome but are rare in. Autism features common in people with rare genetic syndrome. At birth, affected infants have unusually increased body length that is abnormal in proportion to weight, which may also be above average. Sotos syndrome support association sssa is made up of families, physicians, genetic counselors, and health care agencies throughout the. Initially set up in 2003, the cross syndrome project has since strived to address the questions raised by individuals with rare genetic syndromes and their. Sotos syndrome it is an autosomal dominant syndrome considered as a form of cerebral gigantism, most characterized by the prenatal and postnatal overgrowth. Sotos syndrome definition of sotos syndrome by medical.
Sotos syndrome a journey from diagnosis through life duration. The author relates a poignant account of her precious daughter, sandy, who was born with sotos syndrome, a rare genetic disorder. The four major diagnostic criteria were established in 1994 by cole and hughes, based on the systematic assessment of 41 typical cases. It has in the past been known as cerebral gigantism. Understanding behavioural characteristics in sotos syndrome. In addition to overgrowth, accelerated osseous maturation, typical facial features, macrocephaly, and developmental delay are common clinical features. Sotos syndrome definition sotos syndrome is a genetic condition causing excessive growth and a distinctive head and facial appearance. I am lesley and my daughter lucy was diagnosed with sotos syndrome when she was 7 months old.
Sotos syndrome information page national institute of. New england journal of medicine, boston, 1964, 271. To examine language and behavior in children with sotos syndrome, an overgrowth syndrome involving advanced bone age, characteristic facies, and developmental disability. Sotos syndrome cerebral gigantism analysis of 8 cases. Sotos syndrome, described in 1964, was characterized by overgrowth, a distinctive craniofacial configuration, and a nonprogressive neurological disorder with mental retardation.
Sotos syndrome is also known as cerebral gigantism and sotos sequence. This book is wellwritten, accurately detailed, and full of emotion and contains a photo album, as well as detailed information about sotos syndrome. However, coordination problems may persist into adulthood. More than 80 percent of people with sotos syndrome show signs of autism, such as social anxiety and restricted interests. S s s a sotos syndrome support association s s s a otos yndrome upport ssociation p. Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning. Pdf characteristics of autism spectrum disorder in sotos syndrome. Association sssa is made up of families, sotos syndrome. The disorder may be accompanied by autism 1, mild mental retardation, delayed motor, cognitive, and social development, hypotonia low muscle tone, and speech impairments. Sotos syndrome cerebral gigantism is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life. Sotos syndrome is sometimes called cerebral gigantism because of. Epidemiology there is no ethnic group predominance and has been detected throughout the.
As measured by the social responsiveness scale, second edition srs2, 65 participants 83. Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. The clinical features in children suggestive of sotos syndrome, that is a childhood overgrowth condition, were first described in 1964 by sotos et al. World map of sotos syndrome find people with sotos syndrome through the map. Sotos syndrome symptoms, diagnosis, treatments and causes. Sotos syndrome omim 117550, also known as cerebral gigantism, was first described by juan sotos in 1964 in five patients with prenatal and postnatal overgrowth, characteristic facial appearance, advanced bone age and developmental delay. Mutation analysis of the nsd1 gene in patients with autism spectrum. Children with sotos syndrome tend to be large at birth and are often taller. As with other overgrowth syndromes, there is an increased risk for tumors in sotos syndrome. Mim 117550 is an autosomal dominant overgrowth disorder caused by mutations is the nsd1 gene. Method twentyseven children with sotos syndrome were compared with 20 children with overgrowth, intellectual disability, and facies not characteristic of sotos syndrome. Gale encyclopedia of neurological disorders dictionary. A syndrome of excessively rapid growth with acromegalic features and a nonprogressive neurologic disorder.
This disorder is diagnosed by a physical exam, genetic testing, and possibly imaging. A rare hereditary disorder characterized by excessive growth during the first few years of life as well as various other mental and physical anomalies. Language and behavior in children with sotos syndrome. Sotos syndrome cerebral gigantism is a rare genetic disorder caused by mutation in the nsd1 gene on chromosome 5. Characteristics of autism spectrum disorder in sotos syndrome. Sotos syndrome are usually tall for their age and have large. Sotos syndrome orphanet journal of rare diseases full text. Cole and others published sotos syndrome find, read and cite all the research you need on researchgate. Sotos syndrome is a genetic condition causing physical overgrowth during the first years of life. Sotos syndrome is inherited in an autosomal dominant manner. Adults with sotos syndrome stony brook school of medicine. Most cases have been sporadic, perhaps new dominant mutations with low fitness, but there is one set of concordant identical twins on record. Sotos syndrome is a genetic disorder associated with accelerated growth, an advanced bone age, facial characteristics, large hands and feet, poor coordination and developmental delay.
It stems from a mutation in the gene nsd1, which leads to an enlarged head, known as macrocephaly, unusually rapid growth during early childhood, intellectual disability and distinct facial features. There have been many developments since then and an update should be informative. Manual for the child behavior checklist418 and 1991 profile. Sotos syndrome causes overgrowth during the early years of a childs life. This study investigated behavioural characteristics of asd within a large cohort of individuals with sotos syndrome n 78. Children with sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads macrocrania than is normal for.
Sotos syndrome is a genetic condition that causes physical overgrowth and developmental delays during the first years of life. The initial abnormalities of sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Other manifestations such as cardiac and genitourinary anomalies may also be present. Sotos syndrome is an overgrowth disorder which is present.
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