Smith-kingsmore syndrome

Preferred Label : Smith-kingsmore syndrome;

Symbol : SKS;

CISMeF acronym : SKS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Minds syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mechanistic target of rapamycin gene (MTOR, 601231.0001);

Laboratory abnormalities : Hypoglycemia;

Prefixed ID : #616638;

Details

Origin ID

616638;

UMLS CUI

C4225259;

Currated CISMeF NLP mapping
- Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder) [SNOMED CT concept]
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome [ORDO Disease]
Genes related to phenotype
- Mechanistic target of rapamycin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cafe-au-lait spot [HPO term]
- Cryptorchidism [HPO term]
- Curly hair [HPO term]
- Decreased circulating IgA level [HPO term]
- Deep palmar crease [HPO term]
- Deep plantar creases [HPO term]
- Depressed nasal bridge [HPO term]
- Diastasis recti [HPO term]
- Downslanted palpebral fissures [HPO term]
- Feeding difficulties [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Hemimegalencephaly [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Hypoglycemia [HPO term]
- Intellectual disability [HPO term]
- Large for gestational age [HPO term]
- Long philtrum [HPO term]
- Macrocephaly [HPO term]
- Midface retrusion [HPO term]
- Open mouth [HPO term]
- Perisylvian polymicrogyria [HPO term]
- Rhizomelia [HPO term]
- Seizure [HPO term]
- Short chin [HPO term]
- Short distal phalanx of finger [HPO term]
- Short nose [HPO term]
- Short proximal phalanx of finger [HPO term]
- Smooth philtrum [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Thoracic hypoplasia [HPO term]
- Thrombocytopenia [HPO term]
- Umbilical hernia [HPO term]
- Wide anterior fontanel [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder) [SNOMED CT concept]
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome [ORDO Disease]

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