Sotos Syndrome 1 (SOTOS1)

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Disease Ontology 12 DOID:14748 OMIM 56 117550 OMIM Phenotypic Series 56 PS117550 KEGG 36 H00718 MeSH 43 D058495 NCIt 49 C75019 SNOMED-CT 67 75968004 ICD10 32 Q87.3

MESH via Orphanet 44 D058495 ICD10 via Orphanet 33 Q87.3 UMLS via Orphanet 72 C0175695 Orphanet 58 ORPHA821 MedGen 41 C0175695 C4551477 SNOMED-CT via HPO 68 109504005 111266001 11375002 123527003 123982003 126950007 128602000 128613002 16000003 194021007 197811007 203534009 204878001 204888000 205294008 22006008 22066006 224958001 22810007 228156007 229734008 237630007 246545002 246800008 247578003 248328003 249752003 25081006 253140003 253273004 253366007 253549006 253883006 25786006 263681008 271327008 27272007 274521009 275480001 277843001 27911000 281561000 298203008 299330008 299331007 299462005 30275001 302849000 302866003 30288003 313307000 32958008 38101003 396351009 398151007 398152000 400179000 405752007 414915002 414916001 44057004 48334007 52781008 53226007 563001 57219006 59494005 64217002 65363002 69056000 70142008 708670007 72239002 83330001 84757009 86854008 90145001 91138005 91175000 more UMLS 71 C0175695

Genetics Home Reference : ²⁵ 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 palpebral fissures). This facial appearance is most notable in early childhood. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. However, adult height is usually in the normal range. People with Sotos syndrome often have intellectual disability, and most also have behavioral problems. Frequent behavioral issues include attention-deficit/hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums, and impulsive behaviors. Problems with speech and language are also common. Affected individuals often have a stutter, a monotone voice, and problems with sound production. Additionally, weak muscle tone (hypotonia) may delay other aspects of early development, particularly motor skills such as sitting and crawling. Other signs and symptoms of Sotos syndrome can include an abnormal side-to-side curvature of the spine (scoliosis), seizures, heart or kidney defects, hearing loss, and problems with vision. Some infants with this disorder experience yellowing of the skin and whites of the eyes (jaundice) and poor feeding. A small percentage of people with Sotos syndrome have developed cancer, most often in childhood, but no single form of cancer occurs most frequently with this condition. It remains uncertain whether Sotos syndrome increases the risk of specific types of cancer. If people with this disorder have an increased cancer risk, it is only slightly greater than that of the general population.

MalaCards based summary : Sotos Syndrome 1, also known as sotos syndrome, is related to weaver syndrome and beckwith-wiedemann syndrome, and has symptoms including seizures An important gene associated with Sotos Syndrome 1 is NSD1 (Nuclear Receptor Binding SET Domain Protein 1), and among its related pathways/superpathways are Lysine degradation and Gene Expression. Affiliated tissues include eye, bone and heart, and related phenotypes are macrocephaly and hypertelorism

Disease Ontology : ¹² An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.

NIH Rare Diseases : ⁵² Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures . Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have a large head. Other signs and symptoms may include intellectual disability ; behavioral problems; problems with speech and language; and/or weak muscle tone (hypotonia ). Sotos syndrome is usually caused by a mutation in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new mutation in the affected person and occur sporadically (are not inherited).

OMIM : ⁵⁶ 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). (117550)

NINDS : ⁵³ Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5.  It is characterized by excessive physical growth during the first few years of life. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocrania) than is normal for their age. Symptoms of the disorder, which vary among individuals, include a disproportionately large and long head with a slightly protrusive forehead and pointed chin, large hands and feet, hypertelorism (an abnormally increased distance between the eyes), and down-slanting eyes. The disorder is often accompanied by mild cognitive impairment; delayed motor, cognitive, and social development; hypotonia (low muscle tone), and speech impairments. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically (meaning they are not known to be inherited), familial cases have also been reported.

KEGG : ³⁶ Overgrowth syndromes are a heterogeneous group of disorders resulting from the dysfunction of various processes involving cell proliferation, cell growth, or apoptosis. Within this group, Sotos syndrome is characterised by overgrowth, multiple congenital anomalies, and developmental delay. It has been reported that the majority of patients with typical Sotos and Weaver syndrome have intragenic mutations or deletions of NSD1, and thus, represent allelic disorders.

UniProtKB/Swiss-Prot : ⁷³ Sotos syndrome 1: A childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism.

Wikipedia : ⁷⁴ Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first... more...

GeneReviews: NBK1479

Clinical features from OMIM:

117550

Search Clinical Trials , NIH Clinical Center for Sotos Syndrome 1

Search GEO for disease gene expression data for Sotos Syndrome 1.