Ellis-van creveld syndrome

Preferred Label : Ellis-van creveld syndrome;

Symbol : EVC;

CISMeF acronym : EVC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chondroectodermal dysplasia; Mesoectodermal dysplasia;

Description : Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals (summary by Ruiz-Perez et al., 2000). The clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene (604831) or in the EVC2 gene (607261) (Ruiz-Perez et al., 2003, Galdzicka et al., 2002).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the EVC gene (EVC, 604831.0001); Caused by mutation in the EVC2 (limbin) gene (EVC2, 607231.0001);

Prefixed ID : #225500;

Details

Origin ID

225500;

UMLS CUI

C0013903;

Automatic exact mappings (from CISMeF team)
- EvC ciliary complex subunit 1 [HGNC gene]
- Expiratory Vital Capacity [NCIt concept]
- persistent vegetative state [MeSH Descriptor]
Currated CISMeF NLP mapping
- Chondroectodermal dysplasia [ICD-10 Sub-category]
- Chondroectodermal dysplasia [ICD-11 More detail]
- Chondroectodermal dysplasia [ICD-9 code]
- Chondroectodermal dysplasia [PASCAL descriptor]
- Chondroectodermal dysplasia [ICD-10 Sub-category (who)]
- Chondroectodermal dysplasia [MedDRA Preferred Term]
- Chondroectodermal dysplasia (disorder) [SNOMED CT concept]
- Ellis Van Creveld syndrome [ORDO Disease]
- Ellis van Creveld Syndrome [Disease (Nov.)]
- Ellis-Van Creveld Syndrome [NCIt concept]
- Ellis-Van Creveld syndrome [DO Concept]
- Ellis-Van creveld syndrome [MeSH Descriptor]
- Ellis-Van creveld syndrome [MeSH concept]
- Ellis-van Creveld syndrome [MedDRA Preferred Term]
- EvC ciliary complex subunit 1 [ORDO Gene]
- chondroectodermal dysplasia [SNOMED Notion]
DO Cross reference
- Ellis-Van Creveld syndrome [DO Concept]
Genes related to phenotype
- Evc ciliary complex subunit 1 [OMIM gene]
- Evc ciliary complex subunit 2 [OMIM gene]
HPO term(s)
- Abnormality of the alveolar ridges [HPO term]
- Acetabular spurs [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Capitate-hamate fusion [HPO term]
- Cleft upper lip [HPO term]
- Common atrium [HPO term]
- Cone-shaped epiphyses of phalanges 2 to 5 [HPO term]
- Cryptorchidism [HPO term]
- Dandy-Walker malformation [HPO term]
- Delayed eruption of teeth [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Ectodermal dysplasia [HPO term]
- Epispadias [HPO term]
- Genu valgum [HPO term]
- Horizontal ribs [HPO term]
- Hypodontia [HPO term]
- Hypoplastic iliac wing [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Nail dysplasia [HPO term]
- Narrow chest [HPO term]
- Natal tooth [HPO term]
- Neonatal short-limb short stature [HPO term]
- Pectus carinatum [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Short limb dwarfism [HPO term]
- Short long bone [HPO term]
- Short ribs [HPO term]
- Short-limb dwarfism identifiable at birth [HPO term]
- Talipes equinovarus [HPO term]
- postaxial polydactyly fingers/toes [HPO term]
- short, thickened tubular bones [HPO term]
ORDO concept(s)
- Ellis Van Creveld syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chondroectodermal dysplasia [MedDRA Preferred Term]
- Chondroectodermal dysplasia [ICD-10 Sub-category (who)]
- Chondroectodermal dysplasia [ICD-10 Sub-category]
- Chondroectodermal dysplasia [ICD-9 code]
- Chondroectodermal dysplasia [ICD-11 More detail]
- Chondroectodermal dysplasia [PASCAL descriptor]
- Chondroectodermal dysplasia (disorder) [SNOMED CT concept]
- Ellis Van Creveld syndrome [ORDO Disease]
- Ellis van Creveld Syndrome [Disease (Nov.)]
- Ellis-Van Creveld Syndrome [NCIt concept]
- Ellis-Van Creveld syndrome [DO Concept]
- Ellis-Van creveld syndrome [MeSH Descriptor]
- Ellis-Van creveld syndrome [MeSH concept]
- Ellis-van Creveld syndrome [MedDRA Preferred Term]
- EvC ciliary complex subunit 1 [ORDO Gene]
- chondroectodermal dysplasia [SNOMED Notion]

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