Clinical Guidance
Ellis-van Creveld (EVC) syndrome is characterized by postaxial polydactyly of the hands, disproportionate short stature, features of ectodermal dysplasia, congenital heart disease, and radiologic abnormalities (such as short ribs and short tubular bones) . Other less common and more variable features include postaxial polydactyly of the feet, nonspecific dysmorphic facial features, and developmental delay. To date, approximately 250 individuals with EVC syndrome have been identified with pathogenic variants in one of the genes listed in . The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Ellis-van Creveld Syndrome: Frequency of Select Features
Feature | % of Persons w/Feature | Comment |
|---|
Postaxial polydactyly (hands) | 98% | Bilateral in 95% |
Limb shortening | 83% | Prenatal limb shortening in 36% |
Nail dystrophy/hypoplasia | 78% | — |
Short stature | 73% | — |
Congenital heart disease | 66% | Atrial septal defect in 80% |
Thoracic narrowing | 66% | Typically symmetric |
Dental anomalies | 59% | — |
Brachydactyly | 35% | — |
Postaxial polydactyly (feet) | 34% | Bilateral in 90% |
Upper lip defect | 28% | — |
Developmental delay | 9% | Growth deficiency. Disproportionate short stature is common in individuals with EVC syndrome. About one third of individuals manifest growth deficiency in the perinatal setting, with shortened long bones evident on prenatal ultrasound, as well as short stature and/or limb shortening at birth . |
Source: GeneReviews — "Ellis-van Creveld Syndrome"
