Schinzel-giedion midface retraction syndrome

Preferred Label : Schinzel-giedion midface retraction syndrome;

CISMeF acronym : SGS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SGS;

Description : Schinzel-Giedion syndrome is a highly recognizable syndrome characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia (summary by Hoischen et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SET-binding protein-1 gene (SETBP1, 611060.0001);

Neoplasia : Embryonal tumors; Hepatoblastoma; Sacrococcygeal teratoma;

Prefixed ID : #269150;

Details

Origin ID

269150;

UMLS CUI

C0265227;

Automatic exact mappings (from CISMeF team)
- FBN1 wt Allele [NCIt concept]
- Schinzel-Giedion syndrome [ICD-11 More detail]
- Shprintzen-Goldberg syndrome [ORDO Disease]
- Singapore [NCIt concept]
- fibrillin 1 [ORDO Gene]
- sjogren's syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Schinzel-Giedion Midface-Retraction Syndrome [NCIt concept]
- Schinzel-Giedion syndrome [MeSH concept]
- Schinzel-Giedion syndrome [MeSH Supplementary Concept]
- Schinzel-Giedion syndrome [ORDO Disease]
- Schinzel-Giedion syndrome [MedDRA Preferred Term]
- Schinzel-Giedion syndrome (disorder) [SNOMED CT concept]
- schinzel-giedion syndrome [SNOMED Notion]
False automatic mappings
- South Georgia and the South Sandwich Islands [NCIt concept]
Genes related to phenotype
- Set-binding protein 1 [OMIM gene]
HPO term(s)
- Abnormal nasopharynx morphology [HPO term]
- Anteverted nares [HPO term]
- Aplasia/Hypoplasia of the pubic bone [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Broad ribs [HPO term]
- Cerebral atrophy [HPO term]
- Choanal stenosis [HPO term]
- Coarse facial features [HPO term]
- Depressed nasal bridge [HPO term]
- Facial hemangioma [HPO term]
- Failure to thrive [HPO term]
- Hepatoblastoma [HPO term]
- High forehead [HPO term]
- High, sloping forehead [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Hyperconvex nail [HPO term]
- Hypertelorism [HPO term]
- Hypertrichosis [HPO term]
- Hypoplasia of first ribs [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic labia majora [HPO term]
- Hypoplastic labia minora [HPO term]
- Hypoplastic nipples [HPO term]
- Hypospadias [HPO term]
- Hypsarrhythmia [HPO term]
- Increased density of long bones [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Long clavicles [HPO term]
- Low nasal bridge [HPO term]
- Low-set ears [HPO term]
- Macroglossia [HPO term]
- Malar flattening [HPO term]
- Metopic suture patent to nasal root [HPO term]
- Micropenis [HPO term]
- Midface retrusion [HPO term]
- Opisthotonus [HPO term]
- Postaxial hand polydactyly [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent forehead [HPO term]
- Sacrococcygeal teratoma [HPO term]
- Sclerosis of skull base [HPO term]
- Seizure [HPO term]
- Shallow orbits [HPO term]
- Short 1st metacarpal [HPO term]
- Short distal phalanx of finger [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short sternum [HPO term]
- Single transverse palmar crease [HPO term]
- Sloping forehead [HPO term]
- Small scrotum [HPO term]
- Splenopancreatic fusion [HPO term]
- Talipes equinovarus [HPO term]
- Teratoma [HPO term]
- Thickened cortex of long bones [HPO term]
- Thin corpus callosum [HPO term]
- Tibial bowing [HPO term]
- Ureteral stenosis [HPO term]
- Ventriculomegaly [HPO term]
- Wide distal femoral metaphysis [HPO term]
- Widely patent fontanelles and sutures [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Schinzel-Giedion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Schinzel-Giedion Midface-Retraction Syndrome [NCIt concept]
- Schinzel-Giedion syndrome [MedDRA Preferred Term]
- Schinzel-Giedion syndrome [MeSH Supplementary Concept]
- Schinzel-Giedion syndrome [MeSH concept]
- Schinzel-Giedion syndrome [ORDO Disease]
- Schinzel-Giedion syndrome (disorder) [SNOMED CT concept]
- schinzel-giedion syndrome [SNOMED Notion]

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