Rare Medical Conditions: Ellis-van Creveld Syndrome

Ellis-van Creveld Syndrome (EvC) is a rare inherited genetic disorder characterized by polydactyly (extra fingers and toes), dwarfism, and abnormalities in the heart, teeth, nails, and hair. The condition is named for Richard W. B. Ellis of Edinburgh and Simon van Creveld of Amsterdam. The two doctors met on a train while traveling to a pediatrics conference in England in the late 1930's and discovered they both had a patient with this syndrome.

The incidence of EvC is highest in the Old Order Amish community and occurs in some small island populations, but is extremely rare in the general population. It is estimated that EvC affects one in five thousand live births within the Old Order Amish community of Lancaster, Pennsylvania, and one in 60,000 live births in the general United States population. The figures are much lower in European countries, with one child born with EvC in every 150,000 live births. These figures may be low, since many children with Ellis-van Creveld Syndrome may be misdiagnosed with another form of dwarfism, and some may be so mildly affected that symptoms are not readily apparent.

Ellis-van Creveld Syndrome is a recessive trait, and the child must receive the defective gene from both parents to exhibit the syndrome. In closed communities where intermarriage is common, the amount of new genetic material introduced into the population is limited. Whenever a small part of a larger population moves to a new area and intermarry, genes of the founders will disproportionately affect the individuals within that community. In the Old Order Amish community, also known as Mennonites, the gene can be traced back to one couple who came to the Pennsylvania area in 1744.

When both marriage partners carry a recessive gene trait, the chance of their child receiving both genes is 25%; the chance of the child receiving only one gene and being a carrier is 50%; and the chance of the child receiving no gene for the syndrome is 25%. The children born of subsequent pregnancies have the same odds.

Children born with EvC Syndrome may have very few medical problems, while some may have many. The infant will have a narrow rib cage and lungs which are smaller than normal, which can cause difficulty breathing. Heart abnormalities appear in about half of all EvC individuals. There may be a hole in the heart between the atrium (the upper chambers of the heart), or a single atrium. In medical jargon, this is called an atrial septal defect.

Polydactyly is a common manifestation of the syndrome. The hands will be wider than normal, due to an extra pinky. The feet will be squared instead of elongated, and may have extra toes, which are not always on the pinky side of the foot. Nails of the fingers and toes may be set deeper than usual, brittle. Quite often the nails won't grow, but this doesn't occur in every EvC patient.

The trunk will be of normal size, and grow at a normal rate, but the arms and legs will be shorter than normal, and often quite chubby. The face and head will look normal, but the infant may have a partial hare-lip or "lip tie" which usually does not interfere with feeding. The only distinguishing facial feature may be gums which are ridged instead of smooth. Teeth may appear earlier than usual, and the infant may even be born with a tooth or two. As the teeth develop, they may be oddly shaped and brittle. The hair may be finer and thinner than usual.

Fortunately for these individuals, the intelligence is rarely affected. Although one-third to one-half of all infants born with Ellis-van Creveld Syndrome die in infancy due to a combination of heart and lung problems, the prognosis is good for those infants who survive and receive proper medical care.

Lungs are usually smaller than normal, since they are confined within a small rib cage. The infant may breathe faster than normal, but if he/she is a healthy pink this is no cause for concern. Some infants with severe conditions may need to be put on a respirator, although some may only need medications. Young children with EvC are susceptible to lung infections, which they often outgrow as they get bigger.

Atrial septal defects are completely repairable with surgery, and unless the heart and lungs are particularly small, will probably not create a problem for the child until he/she is about a year old. More severe defects may be repaired at around three to six months of age. Once the child has recovered from the surgery, he/she can lead a normal, active life.

Some parents choose to have the extra pinky removed to prevent the child from being teased, while some allow the child to make that decision for themselves when they are older. Extra pinky fingers may be removed when the child is about a year old. At this point, the bones in the hand are mostly soft cartilage, and there is less physical and emotional trauma when the surgery is done at an early age. The extra digit often doesn't function normally, and removing it may improve the grip and prevent it from becoming snagged and damaged on clothing or other objects.

The bones of the legs will grow abnormally. Surgery is usually necessary at some point, although special splints or insoles may delay the need. Ankles and hips may require operations. Bone lengthening may be necessary to make the legs the same length to allow the child to walk comfortably.

Defects in the formation and growth of teeth can take many forms with EvC. Good dental hygiene is especially important for EvC children with heart and lung problems. They should have regular dental checkups, at least every three months, and antibiotics should be given before all dental procedures.

The child may never have a full set of milk teeth or adult teeth. Misshapened or missing teeth can cause malocclusion (where the top and bottom teeth don't come together properly to form a correct bite), or there may be gaps between the teeth. The enamel may be thinner and more prone to decay. Fluoride treatments may be necessary to strengthen the enamel, and coatings may be applied to fill in fissures which may trap food and cause decay. For older children who are bothered by the cosmetic appearance of their teeth, braces, partial dentures or bridgework may be considered. Dental implants are not advisable for children with heart conditions.

A detailed ultrasound may detect problems during pregnancy, but Ellis-van Creveld Syndrome cannot be definitely diagnosed by amniocentesis unless the parents previously had a child with the disorder. There are many genetic forms of dwarfism, and the child will probably not receive a diagnosis of EvC unless there is a family history of the syndrome.

It's normal for parents to be frightened or upset when they are told there is something wrong with their baby, or to feel guilty that they may not have done everything possible to have a healthy baby. Ellis-van Creveld Syndrome is an entirely genetic problem, and the most excellent prenatal care will not prevent it from occurring when the child receives recessive genes from both parents.

Every EvC child is unique and has different strengths and weaknesses, just as physically normal children do. Parents of these children adore them, and consider them to be exceptional characters. Parents can help their EvC children learn to deal with rude comments and staring strangers with good humor by accepting them for who they are, not what they look like. Becoming defensive will only damage the child's self-esteem and reinforce the mistaken notion that they are not acceptable.

A support group for parents of children with Ellis-van Creveld Syndrome exists online and these parents can offer emotional support to you and your family. Knowing that others are dealing with the same issues can make it easier to cope. They can help you teach your child how to deal with physical limitations and learn how to fit in with their peers so they can have a happy, rewarding life.

This article is not meant to take the place of your physician's advice or diagnosis. If you have a family history of dwarfism or other genetic abnormalities, you may wish to ask your doctor to refer to you a geneticist before you attempt to conceive.