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.
CausesGain-of-function mutation in MTOR

Smith-Kingsmore syndrome is a rare genetic disorder that is caused by gain-of-function mutation in a gene MTOR. 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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