Smith–Kingsmore syndrome

Smith–Kingsmore syndrome
Other namesSKS, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, MINDS syndrome
Smith–Kingsmore syndrome is inherited in autosomal dominant fashion
SymptomsIntellectual disability, macrocephaly
CausesGain-of-function mutation in MTOR
Diagnostic methodGenetic testing

Smith–Kingsmore syndrome is a rare genetic disorder that is caused by a gain-of-function mutation in a mTOR gene. The facial features of this syndrome are triangular face with a pointed chin, frontal bossing, hypertelorism, eyes with downslanting palpebral fissures, a flat nasal bridge, a long philtrum.

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