Syndrome of the week

Ellis-van Creveld Syndrome (EvC)
By Sarah Scrafford (guest contributor)

The Ellis-van Creveld syndrome is a genetic disorder that occurs mostly in the Old Order Amish or Mennonite community which lives in Pennsylvania. EvC is a recessive syndrome, and only children who receive the defective gene from both parents are affected. In spite of technological and lifestyle advances and changes, the Amish still follow their own customs and practices and rarely interact with the world outside their closed community. Inter marriages are thus very common among the Amish, and this leads to a high probability of a child being affected.

Children born with EvC syndrome are dwarfish with short arms and legs. Their torsos and heads are normal though some do tend to have a minor hare lip. Their legs grow abnormally and surgery is sometimes required to be able to walk properly. Some children are born with a hole in the heart or with just a single atrium, a condition known medically as an atrial septal defect which can be corrected surgically. Most children born with this condition have breathing difficulties because they have narrow rib cages and smaller than normal lings.

Another common effect of this syndrome in polydactyly – the condition of growing more than five fingers and toes in each hand and foot. The extra digits are of no practical use and may be removed surgically once the child is above a year old. The hands are wider than usual and feet broad instead of elongated. These children’s nails are deep-set and brittle and may not grow at times. Their gums are ridged and teeth brittle and shapeless. Dental hygiene and regular check ups are a must for children with this syndrome.

EvC syndrome does not affect normal development of the brain and children born with this condition are as intelligent as those who are not. Though some die young because of heart and lung complications, others develop resistance as they grow older and are able to live a normal life with the right medical care.
EvC is named after the two physicians who studied and identified the syndrome in the late 1930s – Richard W.B. Ellis of Edinburgh and Simon van Creveld of Amsterdam. It is a completely genetic syndrome and cannot be prevented by any form of pre natal care or treatment. Diagnosis is possible through amniocentesis only for the second child if the first is affected by the syndrome.


NB: Sarah Scrafford is an industry critic, as well as a regular contributor on the subject of RN. She invites your questions, comments and freelancing job inquiries at her email address: sarah.scrafford25@gmail.com.