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 neurodevelopmental conditions known as attention-deficit/hyperactivity disorder (ADHD) and 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.
Inheritance Pattern
Autosomal dominant
Other Names
Macrocephaly, seizures, intellectual disability, umbilical hernia, and facial dysmorphism; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; MINDS syndrome; SKS
Related Genetics Topics
- MTOR — MedlinePlus Genetics
Identifiers
- GTR: C4225259
- MeSH: D008607
- OMIM: 616638
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
