Smith-Kingsmore Syndrome (SKS)

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OMIM® 57 616638 KEGG 36 H01928 MeSH 44 D006554 D008607 D012640 D019465 more Orphanet 58 ORPHA457485

MedGen 41 C4225259 CN233222 SNOMED-CT via HPO 68 128602000 128613002 194021007 19410003 195967001 201281002 203534009 204878001 204888000 2099007 22006008 22066006 22325002 224958001 225570000 228156007 237630007 246545002 246800008 247578003 248200007 249310005 253053003 253170008 254588001 262016004 263681008 267425008 271327008 29260007 29753000 302215000 302866003 313307000 32003007 396347007 398151007 398152000 398206004 398302004 400210000 40159009 415116008 419076005 44548000 4945003 51089004 52767006 53226007 62629000 699439001 700094005 78164000 84757009 90145001 91138005 91175000 991000119106 more EFO 17 EFO_0009050

MedlinePlus Genetics : ⁴³ 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).Many people with Smith-Kingsmore syndrome have unusual facial features, such as a triangular face with a pointed chin, a protruding forehead (frontal bossing), widely spaced eyes (hypertelorism) with outside corners that point downward (downslanting palpebral fissures), a flat nasal bridge, or a long space between the nose and upper lip (long philtrum). However, not everyone with Smith-Kingsmore syndrome has distinctive facial features.

MalaCards based summary : Smith-Kingsmore Syndrome, also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, is related to alacrima, achalasia, and mental retardation syndrome and overgrowth syndrome. 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 intellectual disability

OMIM® : ⁵⁷ 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) (Updated 05-Mar-2021)

KEGG : ³⁶ Smith-Kingsmore syndrome (SKS), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS syndrome), is a rare autosomal dominant disorder. Heterozygous mutations in MTOR gene have been shown to underlie SKS. The most consistent findings in SKS are intellectual disability (ID), developmental delay, megalencephaly, and seizures. There is moderate clinical variability, ranging from patients with macrocephaly, mild ID, and no convulsions, to severe forms in patients with intractable epilepsy, megalencephaly, severe ID, and autistic spectrum disorder.

UniProtKB/Swiss-Prot : ⁷³ Smith-Kingsmore syndrome: An autosomal dominant syndrome characterized by intellectual disability, macrocephaly, seizures, umbilical hernia, and facial dysmorphic features.

Clinical features from OMIM®:

616638 (Updated 05-Mar-2021)

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

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