Overgrowth associated syndrome. Sindrome di Sotos. Epilessia e sindrome di Sotos La sindrome è causata da mutazioni e delezioni del gene NSD1. 11 May SÍNDROME DE SOTOS P Lapunzina Instituto de Genética Médica y Molecular. Hospital Universitario La Paz, Madrid. Lapunzina P, Síndrome. Disease definition. Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with.

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The height is not a handicap for males, usually, but girls with a predicted ultimate height in sindrome de sotos of cm 5 ft 10 in may benefit from treatment with high doses of estrogen or octreotide, to curtail their linear growth, as indicated for tall normal girls 4.

It is expressed in the brain, kidney, skeletal muscle, spleen, thymus, and lung. Before sindrome de sotos ten years, affected children often demonstrate rapid linear growth. Because of the clinical overlap between Weaver syndrome and Sotos syndrome, NSD1 testing should be considered if an Snidrome pathogenic variant is not identified. Individuals with Sotos syndrome often have intellectual impairment, [3] and most also have behavioral problems.

Curr Opin Genet Dev.

Two unrelated individuals with Sotos syndrome have been shown to have left ventricular non-compaction skndrome Martinez et al ]; individuals in another recent study were found to have aortic dilatation. Some infants with this disorder experience yellowing of the skin and whites of the eyes jaundice and poor feeding. For speech development some recommend augmentative df in addition sindrome de sotos speech therapy Distinctive craniofacial anomalies include dolichocephaly, prominent forehead, hypertelorism or telecanthus, epicanthic folds, flat nasal bridge, downslanting palpebral fissures, high arched palate, premature eruption of teeth and pointed chin 6.

Birth length is usually more significantly sindrome de sotos above the 97 th percentile than weight between the 75 th and 97 th percentile.

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The cavum septum pellucidum: It sindrome de sotos appropriate to offer genetic counseling including discussion of sindrome de sotos risks to offspring and reproductive options to young adults who are affected.


If MRI has been performed and ventricular dilatation demonstrated, shunting should not usually be necessary as the “arrested hydrocephalus” associated with Sotos syndrome is typically non-obstructive and not associated with raised intracranial pressure.

Magnetic resonance imaging MRI findings consistently seen in sindrome de sotos syndrome include prominent extra-cerebral fluid filled spaces, modest dde of sindrome de sotos corpus callosum, enlarged ventricles, particularly in the trigone region, and a persistence cavum septi pellucidi and cavum vergae sindrome de sotos. This syndrome is characterized by overgrowth and advanced bone age. However, other features of SGBS not typically found in Sotos syndrome include polydactyly, supernumerary nipples, diastasis recti, and pectus excavatum.

Many individuals with overgrowth do not fulfill the diagnostic criteria for any of the above conditions but nevertheless have other features e. Head circumference is almost invariably large at birth, and generally proceeds sltos the 97 th percentile throughout growth 5.

Acta Pediatr Belg ; The spectrum is broad and ranges from a mild learning disability affected individuals would be expected to live independently and have their own families to a severe learning disability affected individuals would be unlikely to live independently as adults.

How functional abrogation of NSD1 results in Sotos syndrome is not currently known. Congenital heart defects in Sotos syndrome. Thorough history to identify known clinical sequelae of Sotos sindrome de sotos.

Clinical features of NSD1-positive Sotos syndrome. Retrieved sindrome de sotos ” https: Social and behavioral problems during childhood and immaturity in adults may benefit from psychological counsel. Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in sotos syndrome.

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Disease definition Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical sindrome de sotos appearance, overgrowth ve the body in early life with macrocephaly, and mild to severe intellectual disability. In addition, the outside corners of the eyes may point downward down-slanting palpebral fissures.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. The level of intellectual impairment generally remains stable throughout life [ Tatton-Brown sindrome de sotos al b ; Authors, unpublished data]. December 17, ; Last Update: Of note, although Baujat et al [] reported NSD1 pathogenic variants in two individuals with BWS, the individuals do not fulfill the diagnostic criteria for BWS and do fulfill the sinddrome criteria for Sotos syndrome see Genetically Related Disorders.


Accepted 24 October Molecular testing for both conditions is indicated in individuals with clinical overlap. When clinical problems e. This section is not meant to address all personal, cultural, or ethical sindrome de sotos that individuals may face or to substitute sindrome de sotos consultation with a genetics professional.

Clinical features of NSD1-positive Sotos syndrome.

Orphanet: Sindrome di Sotos

Major Features Behavioral problems. Retrieved 8 March The Figure 1 shows a patient with appearance considered typical of Sotos syndrome, and the Figure 2 shows linear growth in sindrome de sotos patients reported in this study. Central nervous system manifestations are present. The average birth length approximates to the 98th centile and the average birth head sindrome de sotos is between the 91st and 98th centiles. Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.

Affected individuals often have a stutter, a monotone voice, and problems with sound production. The main clinical finding in Sotos syndrome is prenatal and postnatal overgrowth.

Problems with speech and language are also common. Received 2 Julyreceived in final form 11 October It remains uncertain whether Sotos syndrome increases the risk of specific types of cancer.

Support Center Support Center. Six individuals with Weaver syndrome [ Douglas et alSindrome de sotos et al ]. DNA banking is the storage of DNA typically extracted from white blood cells for possible future use.

Familial gigantism caused by an NSD1 mutation. See Molecular Genetics for information on allelic variants detected in this gene.