IMAGE ARTICLE | VOLUME 4, ISSUE 4 | OPEN ACCESS DOI: 10.23937/2474-3682/1510100

Ellis Van Creveld Syndrome - A Diagnosis to be Considered in Every Case of Polydactyly

Praneet Lale*, Neeraj Aggarwal, Mridul Agarwal, Raja Joshi and Reena Joshi

Department of Pediatric Cardiac Sciences, Sir Gangaram Hospital, India

*Corresponding author: Dr. Praneet Lale, Department of Pediatric Cardiac Sciences, Sir Gangaram Hospital, New Delhi, India, Tel: +91-9953733335.

Accepted: August 02, 2018 | Published: August 04, 2018

Citation: Lale P, Aggarwal N, Agarwal M, Joshi R, Joshi R (2018) Ellis Van Creveld Syndrome - A Diagnosis to be Considered in Every Case of Polydactyly. Clin Med Img Lib 4:100.

Copyright: © 2018 Lale P, et al. This is an open-access content distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Ellis van creveld Syndrome (EVS) is a rare genetic disorder involving predominantly bones and heart. We report a case of 1 year 2-months-old female child with EVS with positive similar family history in elder sibling. Our patient had classical bilateral postaxial polydactyly of hands and feet associated with congenital heart disease.


Polydactyly, Common atrium


EVS: Ellis Van Creveld Syndrome

Case Report

1 year 2-months-old female child presented to our institution with complains of rapid breathing, failure to gain weight and increase precordial activity. There is no history of consanguineous marriage. Antenatal, natal and post-natal history were not contributory. Elder sibling had similar history. On general examination patient had a short stature with bilateral postaxial polydactyly of hands and feet (Figure 1a and Figure 1b). Cardiovascular examination revealed increased precordial pulsations, loud P2, Ejection systolic murmur of grade 3/6 at left upper sternal border, grade 4/6 pansystolic murmur at apex. Echocardiogram showed common atrium (Figure 2a and Figure 2b) with severe Left Atrio-ventricular valve regurgitation. Based on the clinical and echocardiographic findings with positive family history, the patient was diagnosed to have Ellis Van Creveld Syndrome. Child was started on decongestive therapy and afterload reducing agents. Child was operated with septation of atrium and repair of mitral valve. Postoperative recovery was uneventful and child was discharged in stable condition.


Ellis Van Creveld Syndrome is a rare genetic disorder with autosomal recessive inheritance. The most common clinical feature is shortened long bones of the limbs also called as acromesomelic dwarfism [1-7]. The other features include polydactyly usually bilateral postaxial hexadactyly most often seen in upper limbs on ulnar side and involves lower limb in 10% of cases. They also have wide hands and feet, sausage shaped fingers and dysplastic fingernails [1,7]. Our patient had hexadactyly in both of upper and lower limbs. Other features include genu valga, talipes equinovarus, talipes calcaneovalgus [3] and pectus carinatum with a long narrow chest [1,3,7]. Congenital heart malformations are described in a 50-60% of patients. Most common cardiac anomaly is common atrium. Other cardiac diseases include ventricular septal defect, patent ductus arteriosus, mitral and tricuspid valve disease and rarely hypoplastic left heart syndrome. Our patient had Common atrium with mitral valve cleft leading to severe regurgitation which was repaired successfully.


Figure 1: a.b) Patient had a short stature with bilateral postaxial polydactyly of hands and feet.

Figure 2: a,b) Echocardiogram showed common atrium.


  1. Veena KM, Jagadishchandra H, Rao PK, Chatra L (2011) Ellis-Van Creveld syndrome in an Indian child: a case report. Imaging Sci Dent 41: 167-170.

  2. Alves-Pereira D, Berini-Aytés L, Gay-Escoda C (2009) Ellis-Van Creveld syndrome. Case report and literature review. Med Oral Patol Oral Cir Bucal 14: E340-E343.

  3. Hegde K, Puthran RM, Nair G, Nair PP (2011) Ellis Van Creveld syndrome-a report of two siblings. BMJ Case Reports 2011: 1-8.

  4. Cahuana A, Palma C, Gonzáles W, Geán E (2004) Oral manifestations in Ellis-Van Creveld syndrome: report of Five Cases. Pediatr Dent 26: 277-282.

  5. Cavan BC, Amatong RA, Serafica EM, Cavan-Jumamoy BC, Jiao LL III (2009) Ellis-Van Creveld syndrome in two Filipino siblings. Acta Medica Philippina 43: 57-59.

  6. Baujat G, Merrer ML (2007) Ellis-Van Creveld syndrome. Orphanet J Rare Dis 2: 27.

  7. Gopal G, Belavadi GB (2014) Case report of a child with Ellis-Van creveld syndrome. Int J Pharm Biomed Res 5: 14-17.