Prevalence:

• 1 in 100,000 births.

Ultrasound diagnosis:

• Acromelic and mesomelic shortness of limbs, postaxial polydactyly, narrow chest, ectodermal dysplasia and heart defects.

Associated abnormalities:

• Heart defects are present in >50% of cases: single atrium, large atrioseptal defect, aortic atresia, hypoplastic ascending aorta, hypoplastic left ventricle

Investigations:

• Detailed ultrasound examination.
• Ellis-van Creveld syndrome is caused by mutations in the EVC or EVC2 gene.

Follow up:

• Follow-up should be standard.

Delivery:

• Standard obstetric care and delivery should be in a tertiary center.

Prognosis:

• 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.

Recurrence:

• Autosomal recessive inheritance: 25%.