Ellis-van Creveld syndrome
| Disorder | |
|---|---|
| OMIM #: | #225500 (Click to access OMIM database) |
| Disorder: | Ellis-van Creveld syndrome |
| Also known as: | EVC, CHONDROECTODERMAL DYSPLASIA, MESOECTODERMAL DYSPLASIA |
| Clinical | |
| Phenotype: | skeletal dysplasia, pacts carinatum, short ribs, short limbs, postaxial polydactyly, other skeletal defects, short stature, short limbs, short ribs, hypodontia, other teeth anomalies, nail hypoplasia, nail dysplasia, atrial septal defect, single atrium, congenital heart defect, Dandy-Walker malformation |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| ReferencesRuiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. (2000) Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet Mar;24(3):283-6. PubMed ID: 10700184 1 Amish |
|
| Gene: | EVC |
| Base Change: | c.1886+5G>T |
| Amino Acid Change: | splicing defect |
| Last updated: | 2022-11-03 |
| References |
|---|
| Baujat G, Le Merrer M. (2007) Ellis-van Creveld syndrome. Orphanet J Rare Dis Jun 4;2:27. PubMed ID: 17547743 |
| Chowdhury D, Williams KB, Chidekel A, Pizarro C, Preedy C, Young M, Hendrickson C, Robinson DL, Kreiger PA, Puffenberger EG, Strauss KA. (2017) Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia. J Pediatr Dec;191:145-151. PubMed ID: 29173298 |
| Ginns EI, Galdzicka M, Elston RC, Song YE, Paul SM, Egeland JA. (2014) Disruption of sonic hedgehog signaling in Ellis-van Creveld dwarfism confers protection against bipolar affective disorder. Mol Psychiatry Oct 14. PubMed ID: 25311364 |
| McKusick VA. (2000) Ellis-van Creveld syndrome and the Amish. Nat Genet Mar;24(3):203-4. PubMed ID: 10700162 |
| McKusick VA, Egeland JA, Eldridge R, Krusen DE. (1964) Dwarfism in the Amish. I. The Ellis-van Creveld syndrome. Bull. Johns Hopkins Hosp. 115:306-336. PubMed ID: 14217223 |
| Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. (2000) Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet Mar;24(3):283-6. PubMed ID: 10700184 |
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