Amish, Mennonite, and Hutterite
Genetic Disorder Database

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, short stature, short limbs, short ribs, postaxial polydactyly, hypodontia, other teeth anomalies, nail hypoplasia or dysplasia, cardiac malformation , atrial septal defect, single atrium 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
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: 2019-01-22 

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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