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Genetic Disorders 1.

QuestionAnswer
* Name Ellis-Van Creveld Syndrome
* Mode of Inheritance The disease is autosomal recessive. Both parents must carry the gene in order for it to be passed on.
* Mistake The mistake is a mutation in the EVC gene and the nonhomologous gene EVC2. Also cause by genetic ciliopathy which is the nonfunction of the cilia structures of the cell.
* Population Affect In the general population, the frequency is 1 case per 60,000 live births.Among persons from the Old Order Amish, the incidence is estimated at 5 cases per 1000 live births.2 The frequency of carriers in this population may be as high as 13%.
* Physical Attributes Cleft lipExtra fingers Nail problems :nails Short arms and legs, especially forearm and lower leg Short height Sparse, absent, or fine textured hairTooth abnormalities:Widely spaced teeth Teeth present at birth.Delayed or missing teeth
* Treatment Treatment depends on which body system is affected and the severity of the problem. The condition itself is not treatable, but many of the complications can be treated.
Lifespan & Quality of Life Thoracic dysplasia leads to respiratory insufficiency and cardiac anomalies lead to death in infancy in 50% of patients.Patients who survive infancy have a normal life expectancy.
Created by: daisy13
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