Ellis-van Creveld Syndrome

Updated: Sep 06, 2019
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD  more...
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Practice Essentials

Ellis-van Creveld (EVC) syndrome, a skeletal dysplasia with an autosomal recessive inheritance pattern, is characterized by disproportionate dwarfism; ectodermal dysplasia; short ribs with a long, narrow chest; postaxial polydactyly; the presence of natal teeth; and a high frequency of congenital heart defects. In about 66% of patients diagnosed with EVC syndrome, EVC and EVC2 mutations can be identified via sequencing analysis. [1]  Care for respiratory distress, recurrent respiratory infections, and cardiac failure in the syndrome is supportive. The images below illustrate some of the syndrome's salient phenotypic features. 

EVC syndrome was first described by physicians Richard WB Ellis (1902-1966) of Edinburgh, Scotland, and Simon van Creveld (1895-1971) of Amsterdam, Netherlands. In the late 1930s, the two pediatricians met on a train while traveling to a pediatrics conference in England and discovered that each had a patient with a similarly distinctive phenotype. In 1940, they formally described the genetic syndrome that bears their names, although they initially called it chondroectodermal dysplasia or mesoectodermal dysplasia. [2]

Newborn with Ellis–van Creveld syndrome. Note the Newborn with Ellis–van Creveld syndrome. Note the narrow chest.
Postaxial polydactyly. Postaxial polydactyly.
Newborn with Ellis–van Creveld syndrome. Note the Newborn with Ellis–van Creveld syndrome. Note the narrow chest and disproportionate dwarfism.
Natal teeth and lip tie. Natal teeth and lip tie.

Workup in Ellis-van Creveld syndrome

Genetic testing for mutational analysis of EVC and EVC2 is available clinically by sequence analysis of the entire coding region, deletion/duplication analysis, and linkage analysis.

A radiographic skeletal survey can define skeletal anomalies. Expected findings in patients with EVC syndrome include the following:

  • Retarded bone maturation
  • Acromesomelia
  • Postaxial polydactyly
  • Multiple varieties of carpal fusion 
  • Small iliac crests and sciatic notches
  • Valgus deformity of the knee [3]
  • Fibula disproportionately smaller than the tibia
  • Thorax (short ribs, narrow chest wall)
  • Additional findings - Cubitus valgus, hypoplastic cubitus, supernumerary carpal bone center, clinodactyly of the fifth finger

Chest radiography, electrocardiography, and echocardiography (to evaluate cardiac anatomy) are indicated. Head magnetic resonance imaging (MRI) can be used to reveal structural brain anomalies, while renal ultrasonography can be employed to diagnose renal anomalies.

Management of Ellis-van Creveld syndrome

In addition to supportive care for respiratory distress, recurrent respiratory infections, and cardiac failure, dental care must be addressed. Neonatal teeth should be removed because they may impair feeding, and if they loosen, they can be a choking hazard. For dental care during adulthood, implants and prosthetic rehabilitation are required to replace congenitally missing teeth.

Orthopedic procedures correct polydactyly and other orthopedic malformations. Bone deformity, such as knee valgus with lateral tibial plateau depression and patella dislocation, requires ongoing orthopedic follow-up and care. [4]



The pathophysiology of Ellis-van Creveld (EVC) syndrome is unknown; however, a better understanding may be achieved now that the genes EVC (MIM #604831) and EVC2 (MIM #607261) have been identified. [1]

Histopathologic examination of fetuses diagnosed with EVC syndrome revealed that in the long bones of patients with this condition, chondrocyte disorganization exists in the cartilage's physeal growth zone. In addition, variable chondrocyte disorganization was seen in the central physeal growth zone of the vertebrae.




Ellis-van Creveld (EVC) syndrome is a rare disease.  As of 2007, only about 150 cases had been reported since the syndrome's description in the medical literature by Ellis and van Creveld. [4]  In the world population, the frequency of EVC syndrome is 1 per 60,000 to 1 per 200,000 newborns.

Among persons from the Old Order Amish in Lancaster, Pa, however, the incidence is estimated to be 1 case per 200 livebirths. [5]  The frequency of carriers in this population may be as high as 13%.


Neonatal phenotypic findings include disproportionate small stature and noted increased severity, with progression from the proximal to distal parts of the limbs; shortening of the middle and distal phalanges; polydactyly affecting the hands (unilateral or bilateral) and, sometimes, feet; and hidrotic ectodermal dysplasia primarily affecting the nails, hair, and teeth. Dental problems are frequent, and natal teeth may be present. [6]

In the neonatal period, the leading causes of death are cardiac anomalies and thoracic dysplasia (with a narrow chest wall), with the latter causing severe respiratory compromise. Approximately 50% of patients with Ellis-van Creveld (EVC) syndrome die in early infancy as a consequence of cardiorespiratory problems.

Congenital cardiac malformations occur in 50-60% of cases and include a number of possible defects, such as a single atrium, patent ductus, defects of the mitral and tricuspid valves, ventricular septal defects (VSD), atrial septal defects (ASD), and hypoplastic left heart syndrome. [4] Significant heart disease may manifest as cardiac murmur, along with failure to thrive, cyanosis, shortness of breath, or other cardinal signs of heart failure.

Limitation of hand function, such as the inability to form a clenched fist, is frequently observed.

Potential end-organ system impact may include the following [7] :

  • Renal diagnoses include nephrotic syndrome, nephronophthisis, and renal failure [8, 9, 10]

  • Hepatic abnormalities, such as a congenital paucity of bile ducts, can lead to progressive fibrosis and hepatic failure [8, 11]

  • Hematologic/oncologic impact can range from myelodysplastic changes with dyserythropoiesis to acute leukemia [12, 13]

Patients who survive infancy with non–life-threatening pulmonary or cardiac conditions are expected to have a normal life span.


The highest frequency of Ellis-van Creveld (EVC) syndrome has been noted in one particular inbred population, the Old Order Amish community in Lancaster County, Pa, where, as based on research by McKusick, the largest pedigree has been described (52 cases in 30 sibships). [5]  This very high incidence (1 in 200) is due to a founder effect. The Old Order Amish population in Lancaster stems from the 1742 immigration of about 200 Europeans, with the abnormal gene having been traced back to one immigrant couple, Samuel King and his wife. 

The incidence of EVC syndrome also appears to be more common in the native aboriginal population of Western Australia.


The frequency of Ellis-van Creveld (EVC) syndrome is equal in males and females. The EVC gene is located on autosome #4 and not on the sex chromosomes; hence, the occurrence is independent of the affected patient's sex.


Clinical findings, such as disproportionate extremities, narrow thorax, polydactyly, cardiac defects, and hidrotic ectodermal dysplasia affecting the nails, hair and teeth, are observed and diagnosable at birth.



A poor prognosis is declared in the neonatal period. Congenital cardiac anomalies and thoracic dysplasia (with a narrow chest wall) causing severe respiratory compromise are leading causes of death at this time.

Patients who survive infancy with non–life-threatening pulmonary or cardiac conditions are expected to have a normal life span. Final adult skeletal height has been difficult to predict. Publications have cited an adult height range of 119 cm (3'11") to 161 cm (5'3"). [14]

Developmentally, most patients have normal intelligence. [4] Case reports have cited patients with associated brain malformations (Dandy-Walker anomaly, hydrocephalus, cerebral heterotopias) and developmental delay. [15]


Patient Education

The following organizations may provide helpful information for patients and their families:

Little People of America, Inc.

617 Broadway #518

Sonoma, CA 95476

Toll free: (888) LPA-2001 or (888) 572-2001

Direct: (714) 368-3689

Fax: (707) 721-1896

E-mail: info@lpaonline.org

Website: http://www.lpaonline.org/


Genetic and Rare Diseases Information Center (GARD), of the National Institutes of Health

PO Box 8126

Gaithersburg, Md 20898-8126

Toll free: (888) 205-2311

Fax: (301) 251-4911

Website: https://rarediseases.info.nih.gov