Ellis-van Creveld Syndrome Disease
About Gene:
Ellis-van Creveld Syndrome, also known as Chondroectodermal dysplasia or Ellis-van Creveld dysplasia, is a rare autosomal recessive inherited disorder of skeletal dysplasia in which the affected patient exhibits dwarfism or short stature, with short ribs, forearms and legs. The disease is primarily caused by mutations in the EVC or EVC2 genes. Mutations in the same genes can result in another similar, but a milder condition called Weyers acrofacial dysostosis. The disease is present in 1 in 60,000 to 200,000 newborns.
Number of Patients: 2
Sign and Symptoms:
- Dwarfism
- Polydactyly
- Congenital heart defect
- Cleft palate
- Natal teeth
- Fingernail dysplasia
- Tooth abnormality
- Cryptorchidism
- Limited range of motion
Diagnosis:
Ellis-van Creveld syndrome can be diagnosed prenatally by ultrasound (usually after the 18th gestational week), or after birth by observing short stature, presence of natal teeth, etc, or by determining skeletal aberration by imaging techniques (Radiography, ECG, X-ray, echocardiography,etc). The most reliable method of diagnoses are by molecular diagnostic methods such as DNA mapping.
Preventions:
Ellis-Van-Creveld syndrome is diagnosed by the observation of short stature, slow growth, skeletal abnormalities determined by imaging techniques and sometimes teeth present at birth (natal teeth). Molecular genetic testing for the EVC and EVC2 genes is available on a research basis only. Prenatal diagnosis is possible by ultrasound.
Treatment:
The disease does not have any direct treatment- and is largely symptomatic. Usually, patients receive consultation from pulmonologists, orthopedists, cardiologists, dentists, physiotherapists, plastic surgeons etc. As patients with this condition often have heart abnormalities, they should be referred to pediatrics, orthopedics etc. Often, polydactyly is treated by surgical removal and physiotherapy in the first year of life. Early referrals to pediatric cardiologists can result in surgical or non-surgical treatment of defects in the heart early on in life. Patients are also encouraged to visit dentists early in life for treatment for improving the quality of life and overall wellbeing.