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Ellis-van Creveld syndrome - Symptom
Alternative Names
Chondroectodermal dysplasia; EVC
Symptoms:
- Stillbirth (common)
- Death in early infancy (common)
- Growth hormone deficiency
- Short arms and legs, especially forearm and lower leg
- Sparse, absent, or fine textured hair
- Cleft lip or palate
- Tooth abnormalities:
- Peg teeth
- Widely spaced teeth
- Teeth present at birth (natal teeth)
- Teeth - delayed or absent formation
- Nail problems, including absent or deformed nails
- Limited range of motion
- Extra fingers (polydactyly)
- Epispadias or an undescended testicle (cryptorchidism)
- Heart defects, such as a hole in the heart ( atrial septal defect)
Signs and tests:
- Skeletal x-ray may show fusion of wrist bones, cone shaped fingertips
- Echocardiogram
- Urinalysis
- Chest x-ray showing short ribs
- Ultrasound may locate an undescended testicle
- Genetic testing may be available for mutations in the EVC gene
- Reviewed last on: 6/24/2007
- Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospitalof Philadelphia, Philadelphia, PA. Review provided by VeriMed HealthcareNetwork.
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