Smith-Kingsmore Syndrome (SKS)

Alias:

Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome

Minds Syndrome

Sks

Macrocephaly, Seizures, Intellectual Disability, Umbilical Hernia, and Facial Dysmorphism

Macrocephaly, Seizures, Mental Retardation, Umbilical Hernia, and Facial Dysmorphism

Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Sy

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Smith-Kingsmore Syndrome, also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, is related to tuberous sclerosis and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Smith-Kingsmore Syndrome is MTOR (Mechanistic Target Of Rapamycin Kinase). Affiliated tissues include brain and pons, and related phenotypes are macrocephaly and intellectual disability

Related ID：

MALACARDS：SMT020

OMIM：616638

MESH：D006554