What is Ellis-Van Creveld Syndrome?

Ellis-van Creveld syndrome is a disorder that affects the development of the skeletal system. Babies who are born with the condition usually have several defects, such as extra fingers and disproportionately small arms and legs. The heart and other internal organs may also be underdeveloped or unusually small. Medical complications are fatal in about half of all infants who have Ellis-van Creveld syndrome, though patients who have less severe deformities can often reach a normal life expectancy. Doctors and physical therapists help people learn to manage their conditions throughout their lives.

Physicians Richard Ellis and Simon van Creveld described the condition in detail in 1940, though they were unaware of the underlying genetic causes at the time. Recent studies have shown that Ellis-van Creveld syndrome manifests when there is a major mutation on the EVC gene, also named after the pair of physicians. The disorder is autosomal recessive, meaning that both parents must carry a copy of the mutated gene in order for it to be expressed in their child.

A baby who is afflicted with Ellis-van Creveld syndrome is likely to exhibit a number of skeletal abnormalities. Polydactyly, the presence of one or more additional fingers, is common. The arm and leg bones may be shorter than average for a newborn, and the chest is typically very narrow. The lungs and heart may be underdeveloped at birth, which can lead to severe circulatory and respiratory problems. The brain is not usually affected by Ellis-van Creveld syndrome.

Obstetricians can usually detect Ellis-van Creveld syndrome and other skeletal disorders while a baby is still in the womb during routine ultrasounds. Once a baby is born, doctors can administer x-rays and computerized tomography scans to determine the severity of defects. Genetic testing is performed to confirm that the EVC gene is involved. Infants with heart or lung problems are usually taken directly to critical care units for immediate oxygen therapy, medical care, and surgery to prevent life-threatening complications.

Once bodily systems are stabilized and a baby is able to cry, breathe, and eat without assistance, the family is allowed to go home. Regular checkups are essential during infancy and childhood to monitor ongoing development of the skeletal and muscular system. Growth occurs very slowly and a patient is likely to have a very short stature and permanent physical limitations. Surgeries at different phases of childhood and adulthood can be performed to remove extra fingers and strengthen bones. With physical therapy, an individual can overcome obstacles and learn to live independently.

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