- 1 in 100,000 births.
- Acromelic and mesomelic shortness of limbs, postaxial polydactyly, narrow chest, ectodermal dysplasia and heart defects.
- Heart defects are present in >50% of cases: single atrium, large atrioseptal defect, aortic atresia, hypoplastic ascending aorta, hypoplastic left ventricle
- Detailed ultrasound examination.
- Ellis-van Creveld syndrome is caused by mutations in the EVC or EVC2 gene.
- Follow-up should be standard.
- Standard obstetric care and delivery should be in a tertiary center.
- Neonatal mortality: 50% due to pulmonary hypoplasia and cardiac problems.
- The overall prognosis for affected patients is related to the presence or absence of cardiac abnormalities. Intelligence is normal.
- Autosomal recessive inheritance: 25%.