Ellis-Van Creveld syndrome

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Disease overview

Autosomal recessive disorder characterized by short limb dwarfism, polydactyly and congenital heart defects

Common symptoms

Arms and legs abnormally short with normal head and trunkpolydactylyabnormal hairnailand teeth development. Over half born with congenital heart defectsmost commonly atrial septal defectventricular septal defectpatent ductus arteriosus. Boys can have cryptorchidismepispadias

WHEN TO SUSPECT

  • Recommendation 1

    Observation of short stature, slow growth, skeletal abnormalities on imaging

  • Recommendation 2

    EVC and EVC2 gene testing available on a research basis only

HOW TO TEST

  • Recommendation 1

    Observation of short stature, slow growth, skeletal abnormalities on imaging

  • Recommendation 2

    EVC and EVC2 gene testing available on a research basis only

TREATMENT

  • Recommendation 1

    Respiratory dress treated at birth

  • Recommendation 2

    natal teeth should be removed

PRIMARY CARE

  • Recommendation 1

    Symptomatic treatment

FURTHER SUPPORT

  • Recommendation 1

    Pediatricians, surgeons, cardiologists, dentists, pulmonologists, orthopedists, urologists, PT/OT, genetic counseling. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

  • Recommendation 1

    None currently recruiting

Sources

No data available

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