Here I present: “Ellis-Van Creveld Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. Ellis-Van Creveld綜合症。(EVC/EVC2).
INTRODUCTION.
Ellis–Van Creveld (EVC / EVC2) syndrome is a genetic disorder of skeletal dysplasia.
‘Six-fingered dwarfism’ (‘digital integer deficiency‘) was an alternative designation used for this condition when it was being studied initially in the the Amish and may have served a useful function in defining this then little-known condition for the medical profession, as well as the lay public. The term, however, has been found offensive by some because of the reference to the polydactyly, which is seen as a ‘freakish’ label. For this reason, six-fingered dwarfism has been removed as an alternative name for this entry. This leaves Ellis–Van Creveld syndrome with its initialism, EVC, as the only satisfactory designation. Mesoectodermal dysplasia do not well define the entity and are not satisfactory for general usage, either medical or otherwise.
There is evidence Ellis-van Creveld syndrome (EVC) is caused by homozygous mutation in the EVC gene on cytogenetic location 4p16.2 and genomic coordinates 4:5,711,201-5,829,057.
Ellis-van Creveld type-2 syndrome (EVC2) can also be caused by mutation in a nonhomologous gene located close to the EVC gene in a head-to-head configuration in cytogenetic location 4p16.2 and genomic coordinates 4:5,529,011-5,709,548. The screenshot of the ECV / ECV2 genes 117,857 bp (base pairs) & 180,538 bp (base pairs) of DNA sequence length is shown BELOW. Eight (8) other genes besides ECV / ECV2 in the 4p16.2 cytogenetic location are listed BENEATH. 
| Coordinate | Symbol | Genomic Name |
| 4:4,386,532 | NSG1 | Neuronal vesicle trafficking associated 1 |
| 4:4,418,968 | STX18 | Syntaxin 18 |
| 4:4,859,665 | MSX1 | MSH homeobox 1 |
| 4:5,014,586 | CYTL1 | Cytokine-like protein 1 |
| 4:5,529,011 | EVC2 | EvC ciliary complex subunit 2 (limbin) |
| 4:5,711,201 | EVC | EvC ciliary complex subunit 1 |
| 4:5,820,764 | CRMP1 | Collapsin response mediator protein-1 |
| 4:6,026,199 | JAKMIP1 | Janus kinase and microtubule protein 1 |
| 4:6,269,850 | WFS1 | Wolframin ER transmembrane glycoprotein |
| 4:6,320,581 | PPP2R2C | Protein phosphatase 2A, regulatory B, gamma |
