Ellis-van Creveld Syndrome Treatment & Management

Updated: Apr 21, 2015
  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Maria Descartes, MD  more...
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Treatment

Medical Care

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  • The 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.
    • Prevention of caries includes dietary counseling, plaque control, and oral hygiene instruction.
    • Crown or composite build-ups for microdonts 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.
  • Short stature is considered resulting of chondrodysplasia of the legs and the possible treatment with growth hormone is considered ineffective, unless the patient is also deficient in growth hormone. [22, 3]
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Surgical Care

Orthopedic procedures correct polydactyly and other orthopedic malformations.Cardiac surgery may be needed to correct cardiac anomalies. Management of congenital malformations of the heart in Ellis–van Creveld syndrome is associated with substantial mortality. In particular, the respiratory system appears to be central with respect to postoperative outcome. [23]

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

A retrospective study by Weiner et al indicated that surgery can successfully correct genu valgum in Ellis-van Creveld 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). [24]

Perioperative morb idity

Perioperative morbidity may result from difficulties with airway management and pulmonary abnormalities. [25] 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. [26, 27]

Frenulae, 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.

Dental abnormalities, such as peg teeth or natal teeth, may be more prone to dislodgement during airway instrumentation.

A single report describes a patient with Ellis–van Creveld syndrome who presented with congenital stridor related to a cyst involving the neck and airway. [28]

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Consultations

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  • Clinical geneticist
  • Cardiologist
  • Pulmonologist
  • Orthopedist
  • Urologist
  • Physical and occupational therapist
  • Dentist
  • Psychologist
  • Developmental pediatrician (if developmental delay is present)
  • Pediatric neurologist (if developmental delay is present)
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Diet

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  • No special diet is required unless cardiac failure necessitates dietary restrictions.
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Activity

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  • Activities may be limited secondary to cardiorespiratory status or skeletal anomalies.
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