Ellis-van Creveld syndrome
Ellis-van Creveld syndrome (pronounced: EL-iss van KREH-veld) is a rare genetic disorder characterized by short stature, polydactyly, nail dysplasia, and dental anomalies. The syndrome is named after Richard W.B. Ellis and Simon van Creveld, who first described the condition in 1940.
Etymology
The syndrome is named after the two pediatricians, Richard W.B. Ellis of Edinburgh, Scotland, and Simon van Creveld of Amsterdam, the Netherlands, who first described the condition in 1940.
Symptoms
The most common symptoms of Ellis-van Creveld syndrome include Short stature, Polydactyly (extra fingers or toes), abnormalities of the nails and teeth, and, in some cases, congenital heart defects. Other symptoms may include narrow chest, short ribs, and abnormalities in the bones of the wrist.
Causes
Ellis-van Creveld syndrome is caused by mutations in the EVC or EVC2 gene. These genes are involved in the formation of cilia, which are small, hair-like structures present on the surface of all mammalian cells. The syndrome is inherited in an Autosomal recessive manner, which means both copies of the gene in each cell have mutations.
Diagnosis
Diagnosis of Ellis-van Creveld syndrome is based on a clinical examination and can be confirmed by genetic testing. The clinical examination may include X-rays, echocardiogram, and dental examinations.
Treatment
Treatment for Ellis-van Creveld syndrome is symptomatic and supportive. This may include surgery to correct polydactyly, dental care to address tooth abnormalities, and management of any heart defects.
Prognosis
The prognosis for individuals with Ellis-van Creveld syndrome varies. Some individuals may have normal life expectancy, while others may have life-threatening complications due to heart defects.
See also
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