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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

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.

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Ellis-van Creveld syndrome - Symptom

Alternative Names

Symptoms:

Signs and tests: