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| Disease found: | Ellis-Van Creveld syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Autosomal recessive disorder characterized by short limb dwarfism, polydactyly and congenital heart defects |
| Signs and Symptoms: | Arms and legs abnormally short with normal head and trunk, polydactyly, abnormal hair, nail, and teeth development. Over half born with congenital heart defects, most commonly atrial septal defect, ventricular septal defect, patent ductus arteriosus. Boys can have cryptorchidism, epispadias |
| Diagnosis: | Observation of short stature, slow growth, skeletal abnormalities on imaging; EVC and EVC2 gene testing available on a research basis only |
| Treatment: | Respiratory dress treated at birth; natal teeth should be removed |
| Clinical Management: | Symptomatic treatment |
| Referral: | 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: | None currently recruiting |