Greig cephalopolysyndactyly syndrome

Preferred Label : Greig cephalopolysyndactyly syndrome;

Symbol : GCPS;

CISMeF acronym : GCPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Polysyndactyly with peculiar skull shape;

Description : Greig cephalopolysyndactyly syndrome is characterized by frontal bossing, scaphocephaly, and hypertelorism associated with pre- and postaxial polydactyly and variable syndactyly. The phenotype shows variable expressivity and can also include craniosynostosis. Affected individuals usually have normal psychomotor development (summary by Gorlin et al., 2001).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GLI-Kruppel family member GLI3 gene (GLI3, 165240.0001);

Laboratory abnormalities : Translocation or deletions involving 7p13 (severe case reports);

Prefixed ID : #175700;

Details

Origin ID

175700;

UMLS CUI

C0265306;

Automatic exact mappings (from CISMeF team)
- GLI3 wt Allele [NCIt concept]
- Greig cephalopolysyndactyly syndrome [DO Concept]
- Greig cephalopolysyndactyly syndrome [ICD-11 More detail]
- symbol withdrawn GCPS [HGNC gene]
Currated CISMeF NLP mapping
- Greig Syndrome [NCIt concept]
- Greig cephalopolysyndactyly syndrome [MeSH concept]
- Greig cephalopolysyndactyly syndrome [ORDO Disease]
- Greig cephalopolysyndactyly syndrome (disorder) [SNOMED CT concept]
- Greig's syndrome [MedDRA Preferred Term]
- cephalopolysyndactyly syndrome [Disease (Nov.)]
- greig cephalopolysyndactyly syndrome [MeSH Supplementary Concept]
- greig cephalopolysyndactyly syndrome [SNOMED Notion]
DO Cross reference
- Greig cephalopolysyndactyly syndrome [DO Concept]
Genes related to phenotype
- Gli-kruppel family member 3 [OMIM gene]
HPO term(s)
- 1-3 toe syndactyly [HPO term]
- 3-4 finger syndactyly [HPO term]
- Abnormal heart morphology [HPO term]
- Abnormal muscle fiber morphology [HPO term]
- Abnormality of calvarial morphology [HPO term]
- Accelerated skeletal maturation [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad hallux [HPO term]
- Broad hallux phalanx [HPO term]
- Broad nasal root [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Camptodactyly of toe [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Delayed cranial suture closure [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Hirsutism [HPO term]
- Hydrocephalus [HPO term]
- Hyperglycemia [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability, mild [HPO term]
- Joint contracture of the hand [HPO term]
- Macrocephaly [HPO term]
- Metopic synostosis [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Preaxial foot polydactyly [HPO term]
- Preaxial hand polydactyly [HPO term]
- Scaphocephaly [HPO term]
- Seizure [HPO term]
- Trigonocephaly [HPO term]
- Umbilical hernia [HPO term]
- Variable expressivity [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Greig cephalopolysyndactyly syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Greig Syndrome [NCIt concept]
- Greig cephalopolysyndactyly syndrome [ORDO Disease]
- Greig cephalopolysyndactyly syndrome [MeSH concept]
- Greig cephalopolysyndactyly syndrome [DO Concept]
- Greig cephalopolysyndactyly syndrome (disorder) [SNOMED CT concept]
- Greig's syndrome [MedDRA Preferred Term]
- cephalopolysyndactyly syndrome [Disease (Nov.)]
- greig cephalopolysyndactyly syndrome [MeSH Supplementary Concept]
- greig cephalopolysyndactyly syndrome [SNOMED Notion]

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