This is a rare condition that affects the growth of the bones resulting in the short stature. Most of these cases are born with a heart defect that can create life-threatening problems. The severity of this condition varies between the cases although the motor development and the intelligence appear to be unaffected. The prevalence of this syndrome is estimated to occur with 1 in 60,000 to 200,000 newborns.
Causes
This syndrome is inherited in an autosomal recessive pattern meaning both the copies of the gene in each cell are defective. Typically, the parents of the affected individual may each be the carrier of the defective gene and don’t necessarily present any symptoms associated with this condition. This syndrome is caused by the genetic mutation in the EVC or EVC2 gene which appears to play an essential function as cell-to-cell signaling. These genes regulate a signaling pathway that is required for the normal shaping of various parts of the body. The defect in the gene can prevent the normal signaling that affects the development of various structures such as the bones, teeth and other parts of the body in the developing embryo.
Symptoms
These individuals typically present abnormally short limbs with a normal head and the trunk. The extra digits are identified in all the cases that usually affect both the hands. It is estimated that around half of these cases are born with malformations of the heart, particularly the abnormal opening in the wall between the two upper heart chambers known as atrial septal defect. They also exhibit short ribs resulting from a narrow chest, small fingernails, small or absent teeth along with abnormal knee joints (knock knees). In addition, some of the boys have undescended testicles and an abnormality of the urine canal in the penis.
Diagnosis
The diagnosis is based on the features that are characteristic of this condition such as the skeletal abnormalities with an x-ray, slow growth, short stature and on occasion the presence of teeth at birth (natal teeth).The prenatal diagnosis of this condition is also possible with the identification of short limbs, heart defect and extra fingers. The genetic testing to detect the mutation in either of the genes, EVC or EVC2 can confirm the diagnosis.
Treatment
There is no cure for this syndrome and the treatment is focused on alleviating the symptoms that are evident in each case. The condition such as knock-knee deformity may require corrective surgery and the dental abnormalities may need dental care. The respiratory distress is treated shortly after the birth of the infant occurring from the narrow chest. The heart defect present in most of the cases is usually treated by surgery. Additional supports may be required for individuals with restricted growth to cope with everyday tasks,
References
https://rarediseases.org/rare-diseases/ellis-van-creveld-syndrome/
http://www.cafamily.org.uk/medical-information/conditions/e/ellis-van-creveld-syndrome/
https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome#inheritance
