Madisons Foundation - Moms And Dads In Search Of Needed Support

What

Chondroectodermal dysplasia, or Ellis-van Creveld (EvC) syndrome, is a rare, inherited condition that affects the skeleton, hair, nails, and teeth. Children with EvC are born with disproportionate dwarfism (short limbs, particularly in the lower extremities furthest from the trunk), symmetric postaxial polydactyly (an additional finger next to the little finger), small chests, problems with hair, nails, and teeth, and a high frequency of heart defects.

Who

EvC syndrome has an incidence of about 1 case per 60,000 live births in the United States, and is equally likely to occur in males and females. However, in certain Amish communities, the incidence rises to 5 cases per 1000 live births, with 13% of the population as carriers of the disease gene. Worldwide, EvC syndrome has also been described among the English, Dutch, Jewish, Turkish, and French-Canadian, but its highest frequency is still among the Amish.

Signs and Symptoms

At birth, EvC syndrome is recognized by the physical findings described above: dwarfism, short extremities, hair abnormalities (sparse, absent, or fine), tooth abnormalities (peg teeth, widely spaced teeth, teeth present at birth, delayed or absent teeth formation), nail abnormalities (absent or deformed), short upper lips, narrow chests with short ribs, and extra fingers on hands that are short and wide. Over time, children with EvC also develop a condition called genu valgum, or knock knee, whereby the thigh and lower leg are not aligned. Additionally, 50-60% of patients are born with heart defects—most commonly an atrial septal defect, or a hole in the heart between the right and left atria (smaller chambers). Another 10-25% of children with EvC also are born with an extra toe.

Possible Causes

EvC syndrome is inherited in an autosomal recessive fashion, meaning affected children must inherit two copies of the abnormal gene (1 from each carrier parent). The genes responsible for EvC syndrome are located on chromosome 4, and were given the names EVC and EVC2. Interestingly, these same genes were found to be responsible for an autosomal dominant genetic disorder called Weyers acrofacial dysostosis; essentially, a person with one mutated EVC or EVC2 gene would develop Weyers acrofacial dysostosis, while a person with two mutated genes would have EvC syndrome. Thus, it is likely that a child born with EvC syndrome has at least one parent with Weyers acrofacial dysostosis or EvC syndrome as well.

Diagnosis

EvC syndrome can be diagnosed through recognition of the characteristic physical features and confirmed by blood tests for the genetic mutations. Prenatal findings of growth retardation, skeletal abnormalities, and cardiac defects associated with EvC syndrome may be identified by ultrasound, but a precise diagnosis is usually not possible until after birth. At birth, imaging of the bones and heart (x-rays and echocardiograms) will often assist in making the diagnosis of EvC. Ultimately, genetic testing for mutations of the EVC genes is the only way to confirm the diagnosis.

Treatment

While there is no specific cure for EvC syndrome, treatment should focus on the various complications of individual body systems involved in EvC syndrome. Polydactyly (additional fingers or toes) is treated surgically between the ages of 6 months to 1 year, and requires the removal of the tissue and/or bone of the extra digit. Genu valgum is usually treated by realignment of the legs only if the deformity is severe, and the same applies to other orthopedic malformations that may occur. Continued medical and/or surgical care is needed if there are heart, lung, genital, or dental complications. Children with EvC syndrome should receive consultations with a clinical geneticist, cardiologist, pulmonologist, orthopedist, urologist, physical and occupational therapist, dentist, and psychologist.

Prognosis

While stillbirth and death before six months of age due to cardiorespiratory complications are very common for patients with EvC syndrome (about 50% die in early infancy), survivors have a normal life expectancy and usually have intelligence in the normal range. Final adult height is 43-60 inches, and patients may still experience some limitations in activity due to skeletal anomalies that cannot be corrected with surgery. Overall, however, patients with EvC syndrome who survive infancy fare well and go on to live fairly normal lives.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Medline Plus
National Institutes of Health website offering overview of disease, along with support group contact information.

National Foundation for Ectodermal Dysplasias
Very helpful website with frequently asked questions, support group information for the whole family, research information, and a newsletter.

Greenberg Center for Skeletal Dysplasias
This website of the Greenberg Center at the Johns Hopkins Hospital Center for Medical Genetics offers tutorials, summaries, articles, and links for patients and families with skeletal dysplasias.

Short Persons Support
Lots of useful links to consider.

Little People of America
Very credible website and group devoted to improving the lives of little people.

Allreferheatlh
Presents the material in a very easy to follow format.

Google Search for Chondroectodermal Dysplasia

References and Sources

Laufer-Cahana A (2002). Ellis-van Creveld Syndrome. http://www.emedicine.com/PED/topic660.htm. Online Mendelian Inheritance in Man. (2005). #225500 Ellis-van Creveld Syndrome. http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225500. Fuster V et al. (2004). Chapter 72 Cardiovascular Diseases Due to Genetic Abnormalities: Genetic Basis of Specific congenital Heart Diseases. Hurst’s The Heart. http://www.accessmedicine.com/content.aspx?aID=259042.