[MIM 225 500]

(Chondroectodermal Dysplasia, mesoectodermic dysplasia, Weyer acrofacial (or acrodental) dysostosis)

Approximately 1/60,000 births but much more common in the Amish population. Autosomal recessive transmission of a mutation in the EVC and EVC2 genes on chromosome 4p16. These genes code for a protein which is part of the basilar body of the primary cilia (embryonic period). A heterozygous mutation is called Weyer acrofacial dysostosis and presents with a very similar phenotype.

Clinically

-         dwarfism with short limbs (chondrodystrophy).

-         postaxial polydactyly

-         dysplasia of nails and teeth (ectodermal dysplasia), 

-         cardiac malformation in 60 % of cases: especially abnormalities of the interatrial septum (ASD, total or partial AVC, unique atrium); frequent persistence of left superior vena cava; abnormalities of the pulmonary venous return.

Sometimes: cleft palate, nephronophtisis with progressive renal insufficiency, ductular paucity at the hepatic level causing progressively cirrhosis, myelodysplasia or leukemia; deformation of the chest (pectus excavatum).

Anesthetic implications: 

fragile dentition, short trachea, risk of difficult intubation, decreased pulmonary function (obstructive and restrictive syndrome). Evaluation of renal and hepatic functions. Check hemoglobin level and blood formula. High frequency of the persistence of a left superior vena cava  .

References : 

-        Wu CL, Litman RS. 
Anesthetic management for a child with the Ellis-van Creveld syndrome: a case report.
Paediatr Anaesth 1994; 4:335-7.

-        Abeles AI, Tobias JD. 
Anesthetic implications of Ellis-van Crefeld syndrome. 
J Clin Anesth 2009 ; 20 : 618-21.

• Hills CB, Kochilas L, Schimmenti LA, Moler JH. 
  Ellis-Van Creveld syndrome and congenital heart defects : presentation of an additional 32 cases. 
  Pediatr Cardiol 2011; 32: 977-82. 
• Kaur M, Dass C.
  Anaesthetic challenges of Ellis-van Creveld syndrome.
  J Clin Anesth 2018; 47: 60-1.

Updated: August 2018