Ellis-van Creveld Syndrome Workup

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

In about 66% of patients diagnosed with Ellis-van Creveld (EVC) syndrome, EVC and EVC2 mutations can be identified via sequencing analysis. [1]

Gene 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 (for up-to-date information on gene testing, see Gene Tests).


Imaging Studies

A radiographic skeletal survey can define skeletal anomalies. Expected findings in patients with Ellis-van Creveld (EVC) syndrome include the following:

  • Retarded bone maturation

  • Acromesomelia (relative shortening of the distal and middle segments of the limbs) - Found to be most prominent in the hands, where the distal and middle phalanges are shorter than the proximal phalanx

  • Postaxial polydactyly (polydactyly on the ulnar side of the hand)

  • Multiple varieties of carpal fusion - Fusion of the hamate and capitate bones of the wrist; fusion of the 5th and 6th metacarpals

  • Small iliac crests and sciatic notches (may be revealed on pelvic radiographs)

  • 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.

Prenatal imaging

Ultrasonographic images can detect abnormalities after the 18th week of gestation, including intrauterine growth retardation, skeletal malformations (narrow thorax, marked shortening of the long bones, hexadactyly of the hands and feet), and cardiac defects. These ultrasonographic findings lead to diagnostic discussion of short rib-polydactyly syndromes with the expectant parents. [4] In addition, increased first-trimester fetal nuchal translucency thickness has been reported as early as the 13th week of gestation. [38]    


Other Tests

Consider ocular examination, as eye anomalies (ie, strabismus) have been described.

Using 235 observations of 101 patients with Ellis-van Creveld (EVC) syndrome (49 males, 52 females), Verbeek et al developed growth charts for males and females, aged 0-20 years. [39] The growth charts are useful in the continuity of care of patients with EVC syndrome. Most importantly, early detection of and treatment for growth hormone deficiency, known to occur in EVC syndrome patients, can be facilitated. The growth charts, shown below, reveal that 98% of patients with EVC syndrome will exhibit lower height by age 10 years, when compared with unaffected children.

Dutch growth charts for girls and boys. Adapted fr Dutch growth charts for girls and boys. Adapted from Verbeek S, Eilers P, Lawrence K, Hennekam R, Versteegh F. Growth charts for children with Ellis–van Creveld syndrome. European J of Pediatrics. Feb 2011;170(2);207-277.

Histologic Findings

Histologic findings include the following:

  • Disorganization of chondrocytes in the physeal growth zone of the long bones and vertebrae

  • Retardation of physeal growth zones in childhood