Description

16/3/05

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Description 

 

This is a rare autosomal recessive genetic condition (meaning both parents have to carry the gene) resulting in short stature (average: 3-5'1"), postaxial polydactyly (meaning extra fingers on the pinky side of the hands), short arms and legs in relation to the trunk, short ribs and small lungs, and 50-60% of individuals have congenital heart defects, most often a common atrium or an atrial septal defect of the primum type. This means that rather than having a right and left collecting chamber in their hearts they have only one.  

EvC is a chondroectodermal dysplasia which means that the growth of cartilage and bone is affected as well as any other tissue derived from ectoderm in the embryo such as nails, hair, teeth and sweat glands. So people with EvC have smaller than average, or absent nails, teeth can be oddly shaped, have very thin enamel and make an appearance far too early (Angus cut his first tooth when he was 7 weeks old), and brittle hair (this is just a name. The hair looks normal but each hair is quite thin). There are other conditions grouped under the term ectodermal dysplasias which affect the sweat glands, but I haven't heard of anyone with EvC having these problems.

It is extremely rare for intelligence to be affected but a very small percentage (less than 1%) of babies born with EvC can have structural abnormalities in their brains.

The most upsetting aspect of EvC as a parent is finding out that your child has a heart defect. Short stature and pretty unique hands are fine because they don't affect your child's independence and survival, but a heart defect is a huge blow. The majority of children with a common atrium or ASD (atrial septal defect) will be quite happy up until they reach a year or two and then they can have planned surgery which will fix the problem. Recovery can be slower in kids with EvC because of their smaller lungs, but once they get over it they can carry on as normal. Some children deteriorate before this time and need surgery within weeks or months of birth. We were unfortunate in this respect.

I did read in a couple of articles on the Internet that between a third to a half of children die in infancy (one article specified the first month of life) due to a combination of heart and lung problems. This is a very scary statistic, and I really didn’t like it, but I guess we have to go by the articles written by those with the most access to the available data.  Major breathing difficulties due to small lungs and short ribs can become apparent immediately after birth and sometimes nothing can be done to save the baby. Other children develop problems a few weeks or months down the line because of a combination of heart and lung problems. If your child is really going to struggle you will probably know this by the time they are 3-4 months old. If this happens to your child, I hope you find the support group as helpful as I have. It made such a difference to me to be able to discuss my problems and fears as a parent with other people who have been there too and come out the other side with their wonderful child.

 

 

What Will My Baby Look Like?

 

Your baby will have a normal face and head and look just as cute as you’d expect your newborn to look! If you look into their mouth you may notice that their gums are more ridgy than you’d expect. This is because the teeth are closer to the gum surface. Some babies may even be born with a tooth or two. You will also notice that the inner surface of the lips kind of blends into their gums (multiple frenulae) rather than having a little connection in the middle as you do. This is sometimes referred to as lip-tie. It should not affect speech, breastfeeding or the ability to smile and be adorable.

Your baby’s arms will be shorter than normal and look chubbier. His/her hands will look a bit wide because of the extra finger, but you will find that most people won’t notice this because it’s not very obvious. His/her fingers will be shorter than normal and the nails will be smaller and set slightly deeper in the finger. Some children with EvC do not have fingernails, but this is rare. You may read some reports that their nails never need cutting—this has not been my experience at all!

Your baby’s torso will have a narrow chest which makes the tummy look bigger. The size of the chest varies so in some children you may barely notice a difference. In Angus’ case he looks bell-shaped because his chest is really narrow. You may notice that when your child breathes the lower border of the ribs seems to get sucked in. This is called sub-costal recession and can indicate that your child is working a bit hard to breathe because of their small lungs. If your baby seems otherwise happy and pink, it should not be cause for concern.

Your baby’s legs will be a bit short. The feet will look a little wide and chubby on the top. Roughly 10% of kids with EvC have extra toes. These are not always on the pinky side of the foot (As a group, we parents haven’t yet worked out an extra line for “This Little Piggy Went to Market”!). Getting shoes which fit can be a problem later. Some kids are prescribed shoes from the appliances department at hospital, others can get by on extra wide fittings from Clarks and the like.

As your child grows you will find that the little baby suits which fit from the shoulders and do up at the crotch will be the ones they grow out of first as the torso grows at a normal rate. You will find yourself turning up an awful lot of sleeves and hems on trousers and skirts.

 

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This site was last updated 03/31/09

©Kate Lawrence (BscHons Physiotherapy) 2005