Disease #00603 (EVC (Ellis-van Creveld syndrome (EVC)), OMIM:225500)

Official abbreviation EVC
Name Ellis-van Creveld syndrome (EVC)
OMIM ID 225500
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 157
Phenotype entries for this disease 149
Associated with 2 genes EVC, EVC2
Associated tissues -
Disease features -
Remarks -


Individuals

157 entries on 2 pages. Showing entries 1 - 100.
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00058524 - - - M ? Brazil - - - - - EVC - EVC, EVC2 EVC2 1 1 Karina Silveira
00058525 - - - ? ? Brazil - - - - - EVC - EVC, EVC2 EVC 1 1 Karina Silveira
00307008 - - - M no Italy - - - - - EVC Partial AVCD with common atrium, postaxial polydactyly of the left hand and both feet, and agenesis of the upper lateral incisors bilaterally DYNC2H1, DYNC2LI1, EVC, EVC2, WDR35 EVC 4 1 Francesca Piceci Sparascio
00307010 - - - F no Italy - - - - - EVC Single atrium with partial AVCD, and persistent left superior vena cava draining into the left atrium. Bilateral postaxial polydactyly of hands (operated at 4 years) and feet. X-ray showed clinodactyly of the 5th finger, postaxial polydactyly of toes, proximal fusion between 3rd and 4th, and 5th and 6th toes and metatarsal bones at left. Nails showed no abnormalities. Oral anomalies included agenesis of both upper lateral incisors and lower central incisor bilaterally, and multiple frenula between the upper lip and gingiva. DYNC2H1, DYNC2LI1, EVC, EVC2, WDR35 EVC 4 1 Francesca Piceci Sparascio
00307090 Pat16086 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 parents not available - - - - - - - - EVC - EVC EVC 2 1 Johan den Dunnen
00307091 Pat15219 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 2-generation family, 1 affected, unaffected heterozygous parents (father Weyers acrodental dysostosis) - - - - - - - - EVC - EVC EVC 2 1 Johan den Dunnen
00307092 FamAmish PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 large multigeneration family F;M - United States Amish - - - - EVC - EVC EVC 2 1 Johan den Dunnen
00307093 PatNCL16 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00307094 PatNCL14 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00307095 PatNCL12 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00307096 FanEVC015Pat16218 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 2-generation family, 1 affected, unaffected heterozygous parents/sister F - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00307097 PatI1 affected father and daughter - F;M - - - - - - - EVC father/daughter postaxial polydactyly hands and feet, partial atrioventricular canal with common atrium and agenesis upper lateral incisors bilaterally with enamel abnormalities EVC EVC 1 2 Johan den Dunnen
00307126 Pat1 PubMed: Rudnik-Schöneborn 2011, Journal: Rudnik-Schöneborn 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents from same town not known to be related F ? Turkey - - - - - EVC see paper; ..., height 124.5 cm; short limbs, polydactyly hands/feet, no syndactyly, brachydactyly; nail dysplasia; genu valgum; no cardiac malformation; hypodontia/dysplastic teeth EVC2 EVC2 1 1 Johan den Dunnen
00307127 Pat2 PubMed: Rudnik-Schöneborn 2011, Journal: Rudnik-Schöneborn 2011 2-generation family, 1 affected, unaffacted parents M - Sri Lanka - - - - - EVC see paper; ..., height 151 cm; short limbs, polydactyly hands/right foot, no syndactyly, brachydactyly; nail dysplasia; genu valgum; atrial septal defect; hypodontia/dysplastic teeth EVC EVC 2 1 Johan den Dunnen
00325865 Fam1 PubMed: Valencia 2015 5-generation family, 3 affected (2F, M) F;M yes Lebanon - - - - - EVC see paper; ... EVC2 EVC2 1 3 Johan den Dunnen
00325866 Fam2 PubMed: Valencia 2015 3-generation family, 2 affected (2M) M yes Lebanon - - - - - EVC see paper; ... EVC2 EVC2 1 2 Johan den Dunnen
00325881 Pat10-3 PubMed: Sund 2009 - M - United States white, Hispanic - - - - EVC common atrium/partial AV canal, short stature, polydactyly EVC EVC 1 1 Johan den Dunnen
00325882 Pat4-12 PubMed: Sund 2009 - F - United States African American - - - - EVC ccommon atrium/partial AV canal, short stature, polydactyly EVC EVC 1 1 Johan den Dunnen
00325883 Pat7-11 PubMed: Sund 2009 - M - United States white - - - - EVC common atrium/partial AV canal, large patent ductus arteriosis, short stature, polydactyly EVC2 EVC2 1 1 Johan den Dunnen
00325884 Pat8-3 PubMed: Sund 2009 - M - United States white - - - - EVC common atrium/partial AV canal, coarctation of the aorta, short stature, polydactyly EVC2 EVC2 2 1 Johan den Dunnen
00325885 Pat11-3 PubMed: Sund 2009 - F - United States white - - - - EVC common atrium/partial AV canal, short stature, polydactyly EVC2 EVC2 2 1 Johan den Dunnen
00325886 Fam1 PubMed: Temtamy 2008 4-generation family, 3 affected sibs (F, 2M) F;M yes Egypt - - - - - EVC see paper; ... EVC EVC, STK32B 1 3 Johan den Dunnen
00325887 - PubMed: Temtamy 2008 - - no Italy - - - - - EVC see paper; ... EVC EVC, STK32B 2 1 Johan den Dunnen
00325888 52453 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325889 44736 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325890 39596 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325891 33411 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325892 31682 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325893 GC24941 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 2 1 Johan den Dunnen
00325894 19242 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325895 51185 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325896 GC30714 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325897 36148 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325898 34829 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325899 42597 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325900 31765 PubMed: Tompson 2007 - - - Portugal - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325901 31773 PubMed: Tompson 2007 - - - Portugal - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325902 13524 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325903 33566 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 2 1 Johan den Dunnen
00325904 29726 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325905 12705 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 2 1 Johan den Dunnen
00325906 11089 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325907 12539 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325908 GM13310 PubMed: Tompson 2007 - - - United States Amish - - - - EVC - EVC EVC 1 1 Johan den Dunnen
00325909 family PubMed: Ulucan 2008 5-generation family, 13 affected (3F, 11M) F;M yes Turkey - - - - - EVC - EVC EVC 1 13 Johan den Dunnen
00325910 FamPatB100 PubMed: Galdzicka 2002 2-generation family, 2 affected brothers M - United States Jewish-Ashkenazi - - - - EVC - EVC2 EVC2 2 2 Johan den Dunnen
00325911 - PubMed: Ruiz‐Perez 2003 - - - - gypsy - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325912 - PubMed: Ruiz‐Perez 2003 - F;M - Brazil - - - - - EVC see paper; ..., atrial septal defect, short limb dysplasia with genu valgum, polydactyly, multiple oral frenulae, oligodontia, dysplastic teeth EVC2 EVC2 1 1 Johan den Dunnen
00325913 - PubMed: Ruiz‐Perez 2003 patient, second-cousin parents F yes - - - - - - EVC short limb dysplasia, short ribs, postaxial polydactyly hands, dysplastic nails, dysplastic teeth, hyperplasia alveolar ridges, multiple oral frenulae; patent arterial duct, no other cardiac abnormality EVC2 EVC2 1 1 Johan den Dunnen
00325914 - PubMed: Ruiz‐Perez 2003 stillborn child - - - - - - - - EVC stillborn child, ventricular septal defect, short limbs with postaxial polydactyly hands; radiographs short limbs, classical pelvic configuration EVC2 EVC2 1 1 Johan den Dunnen
00325915 - PubMed: Ruiz‐Perez 2003 family, 2 affected sisters F - Ecuador - - - - - EVC disproportionate short stature, acromesomelic limb shortening, short ribs, postaxial polydactyly hands, nail dysplasia, fusion hamate and capitate; oligodontia, dysplastic teeth, multiple oral frenulae; genu valgum (1/2) EVC2 EVC2 1 2 Johan den Dunnen
00325916 - PubMed: Ruiz‐Perez 2003 family, 2 affected - - - - - - - - EVC ostium primum atrial septal defects, short limb dysplasia, postaxial polydactyly hands, nail dysplasia, tooth dysplasia EVC2 EVC2 1 2 Johan den Dunnen
00325917 45274 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325918 38064 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 2 1 Johan den Dunnen
00325919 47440 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325920 31815 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 2 1 Johan den Dunnen
00325921 9239 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 2 1 Johan den Dunnen
00325922 9293 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325923 35113a PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325924 35142 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325925 53770 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325926 12752 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 2 1 Johan den Dunnen
00325927 34373 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 2 1 Johan den Dunnen
00325928 31085 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325929 23757 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325930 31768 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325931 31685 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325932 48518 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325933 36151 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325934 35582 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325935 12315 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325936 20596 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325937 51235 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325938 10711 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325939 34713 PubMed: Tompson 2007 - - - - - - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325940 36643 PubMed: Tompson 2007 - - - Spain gypsy - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00325941 35537 PubMed: Tompson 2007 - - - Spain gypsy - - - - EVC - EVC2 EVC2 1 1 Johan den Dunnen
00326006 Pat1 PubMed: D'Asdia 2013 fetus - no Italy - - - - - EVC short stature, postaxial polydactyly, short ribs, common atrium, tricuspid valve anomaly EVC, EVC2 EVC 1 1 Johan den Dunnen
00326007 Pat2 PubMed: D'Asdia 2013 - M yes Portugal - - - - - EVC short stature, postaxial polydactyly, hypoplasia of the third phalanges in hands and feet, nail hypoplasia, hypodontia, ichthyosis EVC, EVC2 EVC 1 1 Johan den Dunnen
00326008 Pat3 PubMed: D'Asdia 2013 - M no Italy - - - - - EVC short stature, postaxial polydactyly, short limbs, short ribs, hypoplastic nails, multiple oral frenula EVC, EVC2 EVC 2 1 Johan den Dunnen
00326009 Pat4 PubMed: D'Asdia 2013 fetus M yes Pakistan - - - - - EVC postaxial polydactyly, short limbs, short ribs, pulmonary hypoplasia, atrial septal defect EVC, EVC2 EVC 1 1 Johan den Dunnen
00326010 Pat5 PubMed: D'Asdia 2013 - F yes Iraq - - - - - EVC short stature, postaxial polydactyly, neonatal teeth EVC, EVC2 EVC 1 1 Johan den Dunnen
00326011 Pat6 PubMed: D'Asdia 2013 - M no Romania - - - - - EVC short stature, postaxial polydactyly, short ribs, hypodontia, abnormally shaped teeth, multiple oral frenula, narrow palate, atrial septal defect, club foot, frequent respiratory infections, facial anomalies EVC, EVC2 EVC 2 1 Johan den Dunnen
00326012 Pat7 PubMed: D'Asdia 2013 fetus - no Australia - - - - - EVC postaxial polydactyly, short limbs, short ribs, no oral frenulae, hypoplastic left ventricle, left ventricle outflow tract obstruction, ventricular septal defect, postaxial polydactyly, anteriorly placed anus, club feet, facial anomalies, syndactyly, coronal cleft in lumbar vertebrae, gallbladder hypoplasia, pyelectasia EVC, EVC2 EVC 2 1 Johan den Dunnen
00326013 Pat8 PubMed: D'Asdia 2013 fetus M no Australia - - - - - EVC postaxial polydactyly, short limbs, hypoplastic left heart with mitral stenosis, aortic valve atresia, left ventricular and aortic hypoplasia, micrognathia, facial anomalies, syndactyly EVC, EVC2 EVC 2 1 Johan den Dunnen
00326014 Pat9 PubMed: D'Asdia 2013 - F no Italy - - - - - EVC short stature, postaxial polydactyly, short ribs, atrial septal defect, hypodontia, carpal bone fusion, bowed humeri, onychodystrophy, brachydactyly EVC, EVC2 EVC 2 1 Johan den Dunnen
00326015 Pat10 PubMed: D'Asdia 2013 fetus F yes Italy - - - - - EVC short stature, postaxial polydactyly, short limbs, short ribs EVC, EVC2 EVC 1 1 Johan den Dunnen
00326016 Pat11 PubMed: D'Asdia 2013 - M no Italy - - - - - EVC postaxial polydactyly, hypoplastic nails, multiple oral frenula, teeth anomalies, atrioventricular block EVC, EVC2 EVC 2 1 Johan den Dunnen
00326017 Pat12 PubMed: D'Asdia 2013 fetus - yes Italy - - - - - EVC short stature, postaxial polydactyly, short ribs, partial atrioventricular canal EVC, EVC2 EVC 1 1 Johan den Dunnen
00326018 Pat13 PubMed: D'Asdia 2013 - M no Italy - - - - - EVC short stature, postaxial polydactyly, hypoplastic nails, multiple oral frenula, hypodontia and enamel hypoplasia, patent foramen ovale, hypospadias EVC, EVC2 EVC 2 1 Johan den Dunnen
00326019 Pat14 PubMed: D'Asdia 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Slovakia (Slovak Republic) - - - - - EVC postaxial polydactyly, short limbs, dysplastic nails, gingival anomalies, complete atrioventricular canal EVC, EVC2 EVC 1 1 Johan den Dunnen
00326020 Pat15 PubMed: D'Asdia 2013 - M yes Turkey - - - - - EVC postaxial polydactyly, uncle with polydactyly hypoplastic nails, multiple oral frenula, neonatal teeth, hypoplastic left heart syndrome, aortic coarctation EVC, EVC2 EVC 1 1 Johan den Dunnen
00326021 Pat16 PubMed: D'Asdia 2013 - F no Yugoslavia - - - - - EVC short stature, postaxial polydactyly, short ribs, hypoplastic nails, multiple oral frenula, irregular alveolar ridge, premature eruption of teeth, partial atrioventicular canal, aortic coarctation, EVC, EVC2 EVC 2 1 Johan den Dunnen
00326022 Pat17 PubMed: D'Asdia 2013 - F no Italy - - - - - EVC short stature, postaxial polydactyly, hypoplastic nails, enamel hypoplasia, hypodontia, abnormally shaped teeth, delayed eruption of teeth, common atrium, tricuspid and mitral valve anomalies, patent ductus arteriosus, genu valgum EVC, EVC2 EVC 2 1 Johan den Dunnen
00326023 Pat18 PubMed: D'Asdia 2013 fetus M no United Kingdom (Great Britain) - - - - - EVC short stature, postaxial polydactyly, short limbs, hypoplastic nails, partial atrioventricular canal EVC, EVC2 EVC 2 1 Johan den Dunnen
00326024 Pat19 PubMed: D'Asdia 2013 - M yes Algeria - - - - - EVC short stature, postaxial polydactyly, short ribs, nail hypoplasia, complete atrioventricular canal, small ventricular septal defect component left superior vena cava drains into left atrium by unroofed coronary sinus, Dandy-Walker malformation, epispadias, hypotonia EVC, EVC2 EVC 1 1 Johan den Dunnen
00326025 Pat20 PubMed: D'Asdia 2013 - - no Ireland - - - - - EVC - EVC, EVC2 EVC 2 1 Johan den Dunnen
00326027 Pat22 PubMed: D'Asdia 2013 - M yes Pakistan - - - - - EVC short stature, postaxial polydactyly, short ribs, narrow palate EVC, EVC2 EVC2 1 1 Johan den Dunnen
00326028 Pat23 PubMed: D'Asdia 2013 - F yes Afghanistan - - - - - EVC short stature, postaxial polydactyly, short limbs, hypoplastic nails, multiple oral frenula, patent ductus arteriosus, aortic valve stenosis, congenital thoracolumbar scoliosis EVC, EVC2 EVC2 1 1 Johan den Dunnen
00326029 Pat24 PubMed: D'Asdia 2013 fetus M no Morocco - - - - - EVC postaxial polydactyly, short limbs, short ribs, partial atrioventricular canal, hypoplastic lungs, club feet EVC, EVC2 EVC2 2 1 Johan den Dunnen
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