What is Ellis-Van Creveld syndrome?

Ellis-Van Creveld Syndrome is a disorder that affects the development of the skeletal system. Children who were born with the condition usually have several defects, such as other fingers and disproportionately hand arms and legs. The heart and other internal organs may also be insufficiently developed or unusually small. Medical complications are fatal in approximately half of all infants who have Ellis-Van Creveld syndrome, although patients who have less severe deformities can often achieve normal life expectancy. Doctors and physiotherapists help people learn their conditions throughout their lives. Recent studies have shown that the Ellis-Van Creveld syndrome is manifested when the EVC gene is the main mutation, also named after a pair of doctors. The disorder is autosomal recessive, which means that both parents have to authors of a copy of a mutated gene in order to express their child. Polydactyly, the presence of one or more other fingers, is common. The bones of the arm and the feet may be shorter than the diameter and the chest is usually largei narrow. Lungs and hearts may be insufficiently developed at birth, which can lead to serious circulatory and respiratory problems. The brain is not usually affected by the Ellis-Van Creveld syndrome.

obstetricians can usually detect Ellis-Van Creveld syndrome and other skeletal disorders, while the child is still in the womb during routine ultrasound. Once a child is born, doctors can serve X -rays and computer tomographic scanning to determine the severity of the defects. Genetic testing is performed to confirm that the EVC gene is involved. Children with heart or lung problems are usually taken directly into critical care units for immediate oxygen therapy, medical care and surgery to avoid life -threatening complications.

Once body systems are stabilized and the child is able to cry, breathe and eat without help, the family can go home. Regular checks are necessary to runM childhood and childhood for monitoring the continuing development of the skeletal and muscle system. The growth occurs very slowly and the patient is likely to have a very short figure and permanent physical restrictions. Operations at different stages of childhood and adulthood can be performed to remove other fingers and strengthen the bones. With physical therapy, the individual can overcome obstacles and learn to live alone.