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Ellis-van Creveld syndrome - Symptom
Overview
Symptom
Treatment
Prevention
All Information
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
Polydactyly - an infant's hand
Chromosomes and DNA
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.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.