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Sotos syndrome facial features

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. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin Sotos syndrome is a genetic disorder, described in 1964, characterized by excessive growth before and after birth, a large, elongated (dolichocephalic) head, distinctive facial configuration, and a non-progressive neurological disorder with intellectual disability. Advanced bone age is present in approximately 75 to 85% of patients Sotos syndrome affects about 1 in 14,000 people. 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. Several studies have hinted at an overlap between Sotos syndrome and autism 2,3 Sotos syndrome is a genetic condition causing physical overgrowth during the first years of life. Children with Sotos syndrome are often taller, heavier, and have larger heads than their peers. Because of the distinctive head shape and size, Sotos syndrome is sometimes called cerebral gigantism

Sotos syndrome is characterized by overgrowth, macrocephaly, distinctive facial features, and learning disabilities and is associated with alterations in the nuclear receptor binding SET domain protein 1 (NSD1) gene. Due to the advanced bone age, the eventual adult height is usually at the upper limit of normal Major features of Sotos syndrome include behavioral problems (most notably autistic spectrum disorder), advanced bone age, cardiac anomalies, cranial MRI/CT abnormalities, joint hyperlaxity with or without pes planus, maternal preeclampsia, neonatal complications, renal anomalies, scoliosis, and seizures Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported There are several other features that seem to be common in children with Sotos which can be summarised as follows Divergent squint (usually disappears without treatment) Very high pain threshold (children may not seem to notice fractures of bones) Flat finger and toenail

FIG. 1. A photographic natural history of Sotos syndrome shows the patient as a child (specific age unknown), at about 11-12 years, and currently, at63 years. She has features characteristic of Sotos syndrome including tall stature, typical facial appearance with high forehead and small chin, andthose which can be associated with Sotos syndrome and aging, including diffuse contractures and wrinkled skin Typical facial features include high, broad forehead, frontotemporal sparse hairs, malar flushing, down-slanting palpebral fissures, and a pointed chin Sotos syndrome is a genetic disorder that is rare and is characterized by excessive physical growth before birth and after it. It is often referred to as 'cerebral gigantism'. Sotos syndrome is easily visible in children in the form of defects in facial features, abnormal growth of limbs, motor, social and cognitive delays and physiological.

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. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting. The three cardinal features of Sotos syndrome include a characteristic facial gestalt, learning difficulties, and macrocephaly, and greater than 90% of patients are noted to have all three features (Tatton-Brown and Rahman 2004) The cardinal features of Sotos syndrome are overgrowth (defined as height and/or head circumference > 97th percentile) with advanced bone age, macrocephaly, characteristic facial appearance, and intellectual disability. Although these features are consistent within the Sotos syndrome population, the severity of the phenotype is variable Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life. Excessive growth often starts in infancy and continues into the early teen years. The disorder may be accompanied by autism, mild intellectual disability, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments

My patient_____ has been diagnosed with Sotos syndrome. Learning disabilities, characteristic facial features, and overgrowth characterize Sotos syndrome. Medical complications with Sotos syndrome include management of cardiac anomalies, renal anomalies, scoliosis, seizures, gastrointestinal reflux, and constipation • Overgrowth, characteristic facial gestalt, and learning disability or behavioral abnormalities are considered cardinal clinical criteria of Sotos syndrome. • Cardiac anomalies, renal anomalies, hypodontia, seizures and/or scoliosis are considered as major features Sotos syndrome. Other Names: Cerebral Gigantism. Sotos syndrome is a rare condition characterized by overgrowth, characteristic facial features, and learning disability. It is caused by mutations in the NSD1 gene, which is thought to play a role in regulating growth and development Sotos syndrome is a form of variable genetic disorder that is characterized by excessive growth both before and after the person is born. One of the major features of the syndrome is a specific facial appearance that includes a prominent forehead, facial flushing, prominent, narrow jaw, down-slanting eyelid folds, and a head shape resembling an.

Sotos syndrome is an autosomal dominant condition characterised by a distinctive facial appearance, learning disability and overgrowth resulting in tall stature and macrocephaly. In 2002, Sotos. Sotos syndrome, previously known as cerebral gigantism, is a genetic condition that causes rapid growth and developmental delays in early childhood. The diagnosis is 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. Romana's case was challenging because at 6-years-old, she did not have all of the facial features associated with Sotos Syndrome. The diagnosis was a relief to Romana's parents but she remained happily unaffected. Although in some ways it was very reassuring that we now had an explanation for the delayed development, we soon realized.

Sotos syndrome is an overgrowth condition that is defined by excessive growth, distinct facial features, and difficulties in learning. Other manifestations such as cardiac and genitourinary anomalies may also be present. This disorder is diagnosed by a physical exam, genetic testing, and possibly imaging. Sotos Syndrome (Cerebral Gigantism): Read more about Symptoms, Diagnosis, Treatment. Facial features of Sotos syndrome People with Sotos syndrome have a similar facial appearance. They tend to have prominent foreheads and eyes that slant downward. Their faces may be triangular, tapering from a large forehead to a prominent chin that may jut forward or be somewhat pointed

Characteristic facial features: Rosy coloring over face and nose. High prominent forehead with receding hairline. Down slanting eyelid openings (palpebral fissures) Long narrow face. Prominent jaw with narrow chin and a high, narrow palate. Learning difficulties: Developmental delay. About 15-20% have normal intelligence A Sotos syndrome is a disorder caused by genetic abnormalities. It is characterized by distinct facial appearance, developmental delay, learning difficulty, and overgrowth in childhood. The face of a person with Sotos syndrome is long and narrow. The forehead is high and cheeks are red

Sotos syndrome: MedlinePlus Genetic

In 13 patients with a Sotos-like syndrome but with atypical features, four mutations were found. Fifty-nine patients with congenital overgrowth (24 with classical facial features of Sotos, nine who were Sotos-like, two with Weaver and 24 with non-specific overgrowth) were looked at by Cecconi et al., (2005) Sotos syndrome is a well-described genetic disorder characterized clinically by overgrowth, characteristic facial features, developmental delay, and a host of medical complications Sotos syndrome is an overgrowth-intellectual disability (OGID) syndrome caused by NSD1 pathogenic variants and characterized by a distinctive facial appearance, an intellectual disability, tall stature and/or macrocephaly. Other associated clinical features include scoliosis, seizures, renal anomalies, and cardiac anomalies Other clinical features include high-arched palate and prognathism with premature eruption of teeth, hypotonia, hyperor hypothyroidism, and delayed motor and cognitive development. + + Cerebral Gigantism Syndrome. + + Clinical based on facial gestalt, growth pattern, bone age, and developmental delay. Sotos Syndrome, in Jones KL (ed):.

Sotos Syndrome - NORD (National Organization for Rare

Sotos syndrome is an overgrowth syndrome characterised by pre- and postnatal overgrowth, macrocephaly, advanced bone age, and typical facial features. Weaver syndrome is a closely related condition characterised by a distinctive craniofacial appearance, advanced carpal maturation, widened distal long bones, and camptodactyly. Haploinsufficiency of the NSD1 gene has recently been reported as. Sotos syndrome is characterized by the cardinal features of typical facial appearance, overgrowth (height and/or head circumference ≥2 SD above the mean), and learning disability ranging from mild (children attend mainstream schools and are likely to be independent as adults) to severe (lifelong care and support are required)

Characteristic facial features in Sotos syndrome: Long, narrow head. High, protrusive forehead. Pointed chin. Widely set eyes (hypertelorism). Eyes slant downwards. Orofacial/odontological symptoms Characteristic facial features are associated with the diagnosis. These are more pronounced in children than in adults There is also some overlap between the facial features of Sotos syndrome, Malan syndrome and the 15q overgrowth syndrome [4, 5, 39]. Coarse facies, macroglossia and posterior helical pits can be seen in Beckwith-Wiedemann and Simpson-Golabi-Behmel syndrome [9, 12] In fact, there are instance when facial expressions are delayed. The size of the head grow rapidly, which can be extremely alarming. (1, 3, 5, 7) one case of Sotos syndrome is reported. The clinical features of Sotos syndrome can be mistaken for other health conditions. Many cases of Sotos syndrome are not properly diagnosed. (3, 4, 5, 7 Sotos Syndrome Symptoms . Sotos syndrome is characterized by overgrowth, especially in the bones. Affected persons have facial abnormalities that are especially significant in childhood. This includes having a head that is longer and wider than typical and a pointed chin

Autism features common in people with rare genetic syndrom

  1. Sotos syndrome is an overgrowth condition with features including macrocephaly, characteristic facial features, overgrowth of the body, learning disabilities, behavioral problems, seizures, scoliosis, congenital heart and kidney defects. Asymmetry or hemihyperplasia, syndactyly/polydactyly, and vascular skin abnormalities are not common.
  2. Clinical Features: Sotos syndrome is characterized by characteristic facial features, developmental delay, and increased height and head circumference. Other features may include: neonatal jaundice, scoliosis, seizures, strabismus, conductive hearing loss, congenital heart defects, renal anomalies, and behavioral problems (1). Inheritance
  3. ent forehead, downslanting palpebral fissures, long pointed chin and high-arched palate. In childhood, the height is abov
  4. ent and the chin small. As the child grows older and becomes an adolescent, the face becomes long with the chin being more pro

Sotos syndrome. Sotos syndrome also called Sotos sequence or cerebral gigantism, is a disorder characterized by a distinctive facial features, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities 1).Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin What is Sotos syndrome? Sotos syndrome is a rare genetic condition. As with other syndromes, individuals with Sotos syndrome look alike. Common findings include: larger birth weight and fast growth with tall stature and larger head size (macrocephaly). Typical facial features include a prominent forehead, eyes that appear to slant down, lon Facial Features: - Large forehead - Down slanting eyes - Long, narrow face - Long chin Overgrowth: - Large head size (usually remains large throughout life) - Longer/taller than other children in infancy and childhood - Adult height is usually normal Learning: - Childhood developmental delay - Inte Sotos syndrome is a disease of genetic origin, due to an abnormality or mutation of the NSD1 gene located on chromosome 5. This type of genetic alteration has been identified in approximately 80-90% of the cases of Sotos syndrome. In these cases, the term Sotos syndrome 1 is often used Sotos syndrome (MIM 117550) is an overgrowth syndrome first described by Sotos et al 1 in 1964 with over 200 cases reported to date. The syndrome is characterised by pre- and postnatal overgrowth, macrocephaly, advanced bone age, and distinctive facial features.2 In a review of 79 patients diagnosed as Sotos syndrome, Cole and Hughes3 showed that the overall gestalt was as efficient as.

2. Facial Features. The facial features of individuals with Sotos syndrome are also very specific where they often have a prominent forehead. Almost all (96%) of them have a receding forehead hairline, hypertelorism (widely spaced eyes), pointed chin, downward slanting of the eyelids, long narrow face, high narrow palate, and a head shape that is likened to an inverted pear Sotos syndrome is a genetic disorder characterized by intellectual disability and distinct facial features. Almuriekhi et al. use whole-exome sequencing to identify APC2 mutations in two sibling patients with Sotos features. Apc2-deficient mice exhibit characteristic Sotos-like features. APC2 is a key target of NSD1, the primary gene responsible for Sotos syndrome Sotos syndrome. NSD1, located at 5q35, is the causative gene for Sotos syndrome; most affected patients have a heterozygous mutation or deletion involving this gene. It is estimated to occur in 1:14 000 live births. The cardinal features, present in at least 90%, include intellectual disability, overgrowth and characteristic facial features Sotos syndrome is a neurologic disorder characterized by overgrowth from the prenatal stage through childhood, with advanced bone age, an unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies and seizures, and impaired intellectual development (summary by Kurotaki et al., 2002)

What is Sotos Syndrome Sotos Syndrome Support Associatio

characteristics of Sotos syndrome. Apart from the facial features and the large somatometric parameters, malformations in the central nervous system, cardiovascular system, and genitourinary system were recorded. Examination included heart triplex ultrasonography and cranial magnetic resonance imaging. The clinical overlap between Sotos. Rash Sotos Syndrome NSD 1 Mutation Dear Editor, Sotos Syndrome (SS) is a rare childhood overgrowth condition that was first described in 1964 by Sotos et al. ().It is an autosomal dominant syndrome with a birth prevalence of 7/100.000 ().Sotos Syndrome can be characterized by pre and postnatal accelerated growth with advanced bone age, developmental delay, distinctive facial features and. Sotos syndrome is an uncommon genetic condition characterized by physical overgrowth in childhood, a distinctive facial appearance and learning disabilities. the characteristic facial features.

Furthermore, suspicion of Sotos syndrome has embellished this case. Sotos syndrome or cerebral gigantism, is a rare multi-systemic genetic disorder. The diagnosis is usually made clinically when the patient presents with distinctive facial features (broad forehead, macrocephaly, hypertelorism, flat-bridged nose, and large ears), large stature. Description. Sotos syndrome-2 (SOTOS2) is clinically characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly, with age. Impaired intellectual development and behavior anomalies are. Sotos syndrome; height; puberty; The clinical features of Sotos syndrome, first described in 1964, include large body size with early accelerated growth, advanced bone age, acromegaloid features, and developmental delay, with a non-progressive neurological disorder.1 The reported IQ of these individuals ranges from 18 to 119.2 The typical facies include frontal bossing, large head. Introduction. Sotos syndrome is a congenital overgrowth disorder with an incidence of approximately 1 in 14,000 live births [].The syndrome was first recognised by Sotos et al. [] who observed five patients with similar clinical features.These included excessively rapid growth, acromegalic features and a non-progressive cerebral disorder with mental retardation

A Clinical Study of Sotos Syndrome Patients With Review of

A Case of Sotos Syndrome Caused by A Novel Variant in The

Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the NSD1 gene, located at 5q35. Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that NSD1 could be involved in other cases of autism and macrocephaly Sotos syndrome is similar to these medical conditions: Weaver syndrome, Pitt-Hopkins syndrome, 2-Hydroxyglutaric aciduria and more. Topic. Characterized by delayed development and intellectual disabilities, distinctive facial features, unusually flexible joints, and loose folds of extra skin, especially on the hands and feet..

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

Sotos Syndrome - PubMe

Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. Common symptoms reported by people with Sotos syndrome What is Sotos Syndrome? Sotos Syndrome is a rare genetic disorder characterised by excessive physical growth during the first years of life. Excessive growth often starts in infancy and continues into the early teen years. The condition may be accompanied by other conditions such as autism, mild to severe intellectual disability and learning delays, delayed motor, cognitive and social. Sotos syndrome is an autosomal dominant overgrowth syndrome with length or head circumference typically greater than two standard deviations from the mean at birth and characteristic facial features [].The majority of patients also exhibit some form of developmental delay, which can range from mild to severe Sotos syndrome is characterized by overgrowth, accelerated osseous maturation, typical facial features, macrocephaly, and developmental delay. Other clinical findings may include congenital heart anomalies, scoliosis, and seizures. Sotos syndrome has been shown to be caused by mutations in three different genes: APC2, NFIX and NSD1 The Sotos syndrome or Cerebral gigantism in a genetic pathology characterized by exaggerated physical growth during the first years of life. Specifically, this medical condition is one of the most common overgrowth disorders. The clinical signs and symptoms of this pathology vary from one individual to another, however, there are several characteristic findings: atypical facial features.

Atypical Retinoblastoma in Sotos Syndrome (CerebralSyndromic Diseases at McMaster Children's Hospital - StudyBlue

Sotos syndrome Orphanet Journal of Rare Diseases Full Tex

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature. Eur J Med Genet 2009; 52:140. Shieh JT, Aradhya S, Novelli A, et al. Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization Sotos syndrome is a fully penetrant autosomal dominant disorder. Approximately 95% of Sotos syndrome patients have de novo NSD1 variants, and 5% have an affected parent.Haploinsufficiency for NSD1, the most common etiology, results from intragenic point variants (~80%), 5q35 microdeletions (~10%) or partial NSD1 gene deletions (~5%), (Douglas et al. Am J Hum Genet 72:132-143, 2003; Tatton. The features of Sotos syndrome can vary among affected people. At least 90% of affected people have the 'cardinal' features of the condition, which include a characteristic facial appearance, learning disability, and overgrowth. While the majority have some degree of intellectual impairment, this may range from having a mild learning disability. Sotos syndrome is a developmental disorder characterized by a suite of clinical features. In children, the three cardinal features of Sotos syndrome are a characteristic facial appearance, learning disability and overgrowth (height and/or head circumference > 2 SDs above average) NSD1 Gene Analysis in Sotos Syndrome Clinical Features: The three cardinal features of Sotos syndrome include a characteristic facial gestalt, learning difficulties, and macrocephaly, and greater than 90% of patients are noted to have all three features.1 The characteristic facial gestalt is most recognizable between the ages of one an

features (facial appearance, learning disability, and overgrowth) were shown to occur in at least 90% of afected individuals [Tatton-Brown et al 2005b]. Establishing the Diagnosis he diagnosis of Sotos syndrome is established in a proband by identiication of a heterozygous pathogeni The major clinical criteria for the diagnosis of Sotos syndrome were evaluated by geneticists in a retrospective analysis of patients examined at the Children's Hospital, Goudi, Athens, Greece. Keywords: Sotos Syndrome, Distinctive Facial Gestalt, Prominent Forehea Background: Sotos syndrome is characterized by overgrowth. The four mayor criteria for diagnosis are: overgrowth (accelerated bone age), macrocephaly, characteristic facial features and developmental delay The diagnosis is typically made through the observation of a number of physical characteristics including bone age, facial features, muscle tone and developmental delays. Below is a description of the diagnostic criteria typically used to diagnose Sotos syndrome summarized from a list compiled by Angela E. Lin, MD, G. Bradley Schaefer, MD. Sotos syndrome is a rare sporadic genetic disorder characterized by pathognomonic facial features, motor developmental delay induced by hypotonia, learning difficulties, and cardiac and renal anomalies. This report describes the case of a 4-year-old child with Sotos syndrome who underwent a right hydrocelectomy under general anesthesia

Seizures and epilepsy in Sotos syndrome: Analysis of 19

Sotos syndrome is also known as cerebral gigantism and Sotos sequence. It's a genetic disorder that affects children. Sotos syndrome causes overgrowth during the early years of a child's life Wolf-Hirschhorn syndrome is a genetic disorder that can lead to birth defects and developmental problems.   It results in distinctive facial features, short stature, intellectual disability, and abnormalities of several organ systems Table 1: Clinical features associated with Sotos syndrome Cardinal features Major features ˜ height Scoliosis ˜ head circumference Heart problems Learning difficulties Seizures Characteristic facial appearance Kidney problems MANAGEMENT OF SOTOS SYNDROME There is still much debate about the correct protocol for the management of Sotos. Sotos syndrome is one of the most common overgrowth diseases and it predisposes patients to cancer, generally in childhood. The prevalence of this genetic disorder is 1:10,000-1:50,000, and it is characterized by wide allelic heterogeneity, with more than 100 different known mutations in the nuclear receptor-binding SET domain containing protein 1 (NSD1) gene Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exa ct prevalence remains unknown but hundreds of cases have been reported

Sotos syndrome (cerebral gigantism): analysis of 8 cases

Sotos Syndrome Picture

It is 40 years since the first case of Sotos syndrome was reported. For most of the past four decades the diagnosis of Sotos syndrome has been dependent on the subjective evaluation of clinical criteria, primarily whether the facial gestalt is present. The recent identification of NSD1 (Nuclear receptor-binding SET domain containing protein) mutations and deletions in the great majority of. Sotos syndrome. Sotos syndrome involves increased birth weight and length as well as an advanced bone age. It is caused by an intragenic loss of function mutation, particularly the gene encoding NSD1. It can be distinguished from other overgrowth syndromes in that it has distinctive facial features including macrodolichocephaly; frontal bossing. The name 'Sotos' syndrome came from the name of Dr. Juan Sotos - an American endocrinologist who in 1964 identified a number of patients who had unusually rapid growth, an advanced bone age, large heads, coarse facial features, and a developmental delay Sotos syndrome: a genetic condition that leads to a characteristic facial appearance (long, narrow face, reddened cheeks, high forehead, small chin) as well as delayed mental and motor development or learning disabilities.Overgrowth during childhood is another feature of Sotos syndrome. Other possible symptoms and signs can include: behavioral disturbances A clinical diagnosis of Sotos syndrome can be made for individuals who have cardinal facial features, overgrowth, and a learning disability. Typical facial features, which are most recognizable between ages 1 and 6 years, include a tall prominent forehead, a long narrow face, a prominent narrow jaw (head/face shape like an inverted pear), down.

Genotype-Phenotype Associations in Sotos Syndrome: An

Sotos syndrome - Conditions - GTR - NCB

DiGeorge syndrome is a genetic disorder that results from a defect in chromosome 22. Individuals with DiGeorge syndrome have a part of chromosome 22 deleted. DiGeorge syndrome results in delayed or impaired development of several systems in the body. One in every four thousand individuals may be affected by DiGeorge Syndrome. DiGeorge Syndrome. Sotos Syndrome. Terminal 22q deletion syndrome Symptoms include severe speech delay or absent speech; low muscle tone; possible motor skill regression; possible features of autism; atypical facial features. Triplo-x Syndrome Affects only girls. Females with Triplo-x have an extra X chromosomes in the cells of their body. Speech and language. Test Indications: Sotos syndrome is characterized by characteristic facial features, developmental delay, and increased height and head circumference. Other features may include: neonatal jaundice, scoliosis, seizures, strabismus, conductive hearing loss, congenital heart defects, renal abnormalities, and behavior problems Although Romana has most of the clinical features of Sotos Syndrome, she does not have some of the characteristic facial features and Trevor Cole diagnosed her as a probable case of Sotos. Although in some ways it was very reassuring that we now had an explanation for the delayed development, we soon realised that a label made no.

Sotos Syndrome - GeneD

Sotos syndrome (SOS) Generally sporadic, a few inherited cases. The familial case reported in 2003 was proved to have NSD1 mutation. Excessive growth, advanced bone age, typical facial gestalt,developmental delay. In infancy growth is rapid, but settles down above the >97th centile in early childhood. The adult height remains close to normal Sotos syndrome is characterized by tall stature, advanced bone age, typical facial abnormalities, and developmental delay. The associated gene is NSD1. The study involved 22 patients who fulfilled the clinical criteria. Phenotypic characteristics, central nervous system findings, and cardiovascular and urinary tract abnormalities were evaluated. Meta-analysis on the incidence of cardinal. Then at about 2 and a half we got a new paediatrician and she walked in and said, he has Sotos Syndrome. We haven't even done genetic testing, as he just fits the mould. He has the typical facial features. Q: What have been the biggest challenges for you as a mum of Angu

Epilepsy and early-onset overgrowth syndrome revealingWilliams Syndrome: A Case Series

Figure 1 Typical facial phenotype in overgrowth groups 1, 2, and 3. A, Group 1 (classic facial gestalt of Sotos syndrome).B, Group 2 (patients with similarities to Sotos syndrome but with some atypical characteristics; primarily the facial features were not classical).C, Group 3 (Weaver syndrome). Patients in Group 4 did not have a distinctive facial phenotype but were characterized by not. Sotos syndrome is a specific disorder of growth and development with normal endocrine function. 1 Characteristic facial features, large birth size with marked linear growth in the first few years of life, advanced bone age, and developmental delay are the major diagnostic criteria of this syndrome. 1 A large number of ocular disorders have been described in association with Sotos syndrome. 2-4. Sotos syndrome is characterized by high birth length, rapid bone growth, distinctive facial features, and possible verbal and motor delays. It is more common in males than females. Developmental deficits, specific learning problems, and speech/language delays may also occur. (DB On examination, he had the typical phenotypic features of Sotos syndrome which included accelerated growth with height and weight more than three standard deviations (SD) above the mean. He had coarse facial features, prominent forehead, macrocephaly, large ears, hypertelorism and aplethoric face Sotos syndrome 1. Sotos syndrome 1 (SOTOS1; MIM 117550) is an autosomal dominant overgrowth disorder caused by mutations is the NSD1 gene. In addition to overgrowth, accelerated osseous maturation, typical facial features, macrocephaly, and developmental delay are common clinical features