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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in a gene called MTOR cause Smith-Kingsmore syndrome. The protein produced from this gene, called mTOR, is a key piece of two groups of proteins, known as mTOR complex 1 (mTORC1) and mTOR complex2 (mTORC2). These two complexes relay signals inside cells that regulate protein production and control several cellular processes, including growth, division, and survival. This mTOR signaling is especially important for growth and development of the brain, and it plays a role in a process called synaptic plasticity, which is the ability of the connections between nerve cells (synapses) to change and adapt over time in response to experience. Synaptic plasticity is critical for learning and memory.</p><p>MTOR gene mutations that cause Smith-Kingsmore syndrome increase the activity of the mTOR protein and, consequently, mTOR signaling. As a result, protein production normally regulated by these complexes is uncontrolled, which impacts cell growth and division and other cellular processes. Too much mTOR signaling in brain cells disrupts brain growth and development and synaptic plasticity, leading to macrocephaly, intellectual disability, seizures, and other neurological problems in people with Smith-Kingsmore syndrome. Excessive mTOR signaling in other parts of the body likely underlies the unusual facial features and other less common signs and symptoms of the condition. It is unclear why the brain is particularly affected in people with Smith-Kingsmore syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Smith-Kingsmore syndrome?"},{"bodyHtml":"<p>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.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"smith-kingsmore-syndrome","sourceDocuments":[{"name":"Smith-Kingsmore syndrome","reviewed":"2019-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:03.927076+00:00","label":"Causes","pageSha256":"cfa7e0f994ef018b66ac0a2f8d7e7b6f3076cbd0f6e3f6161ff54b0b27a43f41","sourceUrl":"https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Smith-Kingsmore syndrome"},"schemaVersion":1}