Ellis-van Creveld Syndrome Treatment & Management

Updated: Nov 06, 2017
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD  more...
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Treatment

Medical Care

 

The medical management of Ellis-van Creveld (EVC) syndrome is multidisciplinary. Care for respiratory distress, recurrent respiratory infections, and cardiac failure is supportive.

Dental care in childhood includes the following:

  • Neonatal teeth should be removed because they may impair feeding, and if they loosen, they can be a choking hazard
  • Prevention of caries includes dietary counseling, plaque control, and oral hygiene instruction
  • Crown or composite build-ups for microdont/microdontia may be indicated
  • Partial dentures can maintain space and improve mastication, esthetics, and speech due to congenitally missing teeth
  • For dental care during adulthood, implants and prosthetic rehabilitation are required to replace congenitally missing teeth
  • It is important to address the need for prophylactic antibiotic coverage given the high incidence of congenital cardiac defects in patients with EVC syndrome

Short stature is considered to result from chondrodysplasia of the legs, and treatment with growth hormone is considered ineffective, unless the patient is also deficient in growth hormone. [38, 3]

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Surgical Care

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. [3]  

A retrospective study by Weiner et al indicated that surgery can successfully correct genu valgum in Ellis-van Creveld (EVC) syndrome. The study, which involved 23 limbs (13 patients), found that operative treatment (a combination of radical soft tissue release, patellar realignment, and bony osteotomy) reduced valgus deformity of the knee to 10° or less in all patients, with all but four limbs having maintained the correction to 20° of deformity or less at follow-up (average 5 years). [39]

Cardiac surgery may be needed to correct cardiac anomalies. Management of congenital cardiac malformations in EVC syndrome is associated with substantial mortality. In particular, the respiratory system appears to be central with respect to postoperative outcome. [40]

Thoracic expansion has been attempted in some patients. Urologic surgery is required if epispadias, cryptorchidism, or both are present.

Perioperative morbidity

Perioperative morbidity may result from difficulties with airway management and pulmonary abnormalities. [6] Although these concerns are less common than congenital heart disease, abnormalities leading to difficulties in airway management include cleft lip and palate and orodental malformations. [41, 42]  Dental abnormalities, such as peg or natal teeth, may be more prone to dislodgement during airway instrumentation.

Frenula, or fusions between the inner upper lip and gum, as well as maxillary or mandibular deformities, may lead to difficulties in bag-valve-mask ventilation and should be identified during the preoperative evaluation.

A case report describes a patient with EVC syndrome who presented with congenital stridor related to a cyst involving the neck and airway. [43]

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Consultations

See the list below:

  • Clinical geneticist/genetic counselor
  • Cardiologist
  • Pulmonologist
  • Orthopedist
  • Nephrologist
  • Urologist
  • Physical and occupational therapist
  • Dentist/orthodontist
  • Psychologist (to assist with emotional support and address adaptive needs)
  • Developmental pediatrician (if developmental delay is present)
  • Pediatric neurologist (if developmental delay is present)
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Diet

No special diet is required unless cardiac failure and/or renal compromise indicate the need for dietary restrictions.

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Activity

Activities may be limited secondary to cardiorespiratory status or skeletal limitations.

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