Symptoms & Signs
- Cleft lip or palate
- Epispadias or undescended testicle (cryptorchidism)
- Extra fingers (polydactyly)
- Limited range of motion
- Nail problems, including missing or deformed nails
- Short arms and legs, especially forearm and lower leg
- Short height (between 3 1/2 and 5 feet tall)
- Sparse, absent, or fine textured hair
- Tooth abnormalities:
- Peg teeth
- Widely spaced teeth
- Teeth present at birth (natal teeth)
- Delayed or missing teeth
Diagnosis & Tests
Signs of this condition include:
- Growth hormone deficiency
- Heart defects, such as a hole in the heart (atrial septal defect) occur in about half of all cases
Tests include:
- Chest x-ray
- Echocardiogram
- Genetic testing may be available for mutations in the EVC gene
- Skeletal x-ray
- Ultrasound
- Urinalysis
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Ellis-van Creveld syndrome : Overview, Causes, & Risk Factors
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Ellis-van Creveld syndrome : Symptoms & Signs, Diagnosis & Tests
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Ellis-van Creveld syndrome : Treatment
Review Date : 8/11/2009
Reviewed By : Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed HealthcareNetwork. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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