Smith-Kingsmore Syndrome (SKS)

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OMIM 58 616638 KEGG 38 H01928 MeSH 45 D006554 D008607 D012640 D019465 more Orphanet 60 ORPHA457485

MedGen 43 C4225259 CN233222 SNOMED-CT via HPO 70 128602000 128613002 194021007 201281002 22006008 22066006 225570000 228156007 237630007 246545002 246800008 247578003 249310005 253170008 262016004 263681008 271327008 29260007 302215000 302866003 313307000 396347007 40159009 415116008 51089004 62629000 699439001 84757009 90145001 91138005 91175000 more EFO 17 EFO_0009050

Genetics Home Reference : ²⁶ Smith-Kingsmore syndrome is a neurological disorder characterized by a head that is larger than normal (macrocephaly), intellectual disability, and seizures. In some people with this condition, the ability to speak is delayed or never develops. Some children with Smith-Kingsmore syndrome have features of a behavioral condition called attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder, which is characterized by impaired communication and social interaction. Structural brain abnormalities may also be present in affected individuals. For example, one or both sides of the brain may be enlarged (hemimegalencephaly or megalencephaly) or have too many ridges on the surface (polymicrogyria), or the fluid-filled spaces near the center of the brain (ventricles) may be bigger than normal (ventriculomegaly).

MalaCards based summary : Smith-Kingsmore Syndrome, also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, is related to actinic keratosis and neuroblastoma. An important gene associated with Smith-Kingsmore Syndrome is MTOR (Mechanistic Target Of Rapamycin Kinase), and among its related pathways/superpathways is mTOR signaling pathway. Affiliated tissues include brain and pons, and related phenotypes are macrocephaly and hypertelorism

OMIM : ⁵⁸ Smith-Kingsmore syndrome is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015). (616638)

UniProtKB/Swiss-Prot : ⁷⁶ Smith-Kingsmore syndrome: An autosomal dominant syndrome characterized by intellectual disability, macrocephaly, seizures, umbilical hernia, and facial dysmorphic features.

Clinical features from OMIM:

616638

Search Clinical Trials , NIH Clinical Center for Smith-Kingsmore Syndrome

Search GEO for disease gene expression data for Smith-Kingsmore Syndrome.