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GTR Home > Conditions/Phenotypes > Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Synonyms
MACROCEPHALY, SEIZURES, MENTAL RETARDATION, UMBILICAL HERNIA, AND FACIAL DYSMORPHISM; Smith-Kingsmore syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Smith-Kingsmore syndrome (SKS) is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015). [from OMIM]

Available tests

25 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FRAP, FRAP1, FRAP2, RAFT1, RAPT1, SKS, MTOR
    Summary: mechanistic target of rapamycin kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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