Chondroectodermal dysplasia
Chondroectodermal Dysplasia
Chondroectodermal dysplasia (pronounced: kon-dro-ek-to-der-mal dis-pla-zia), also known as Ellis-van Creveld syndrome, is a rare genetic disorder characterized by skeletal abnormalities, ectodermal dysplasia, and congenital heart defects. The term originates from the Greek words 'chondro' meaning cartilage, 'ectoderm' referring to the outermost layer of cells in an embryo, and 'dysplasia' meaning abnormal growth or development.
Symptoms
The symptoms of chondroectodermal dysplasia include short stature, polydactyly (extra fingers or toes), abnormalities in the nails and teeth, and congenital heart defects. Some individuals may also have respiratory distress due to narrow chest and short ribs.
Causes
Chondroectodermal dysplasia is caused by mutations in the EVC or EVC2 genes. These genes are involved in the development of bones and other tissues. The disorder is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell must have mutations for the individual to be affected.
Diagnosis
Diagnosis of chondroectodermal dysplasia is based on physical examination, genetic testing, and imaging studies such as X-ray and echocardiogram to detect heart defects.
Treatment
Treatment for chondroectodermal dysplasia is symptomatic and supportive. It may include surgical correction of skeletal and dental abnormalities, management of respiratory and cardiac problems, and genetic counseling for affected individuals and their families.
See also
References
External links
- Medical encyclopedia article on Chondroectodermal dysplasia
- Wikipedia's article - Chondroectodermal dysplasia
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