Genetics Home Reference :
25
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
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,
eye and
skin, and related phenotypes are
intellectual disability and
macrocephaly
OMIM :
56
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)
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.
Rare neurological diseases 
