Ellis-van Creveld syndrome affects skeletal development, causing defects such as extra fingers and small limbs. It is caused by a mutation on the EVC gene and can be fatal in some cases. Regular checkups and surgeries can help manage the condition.
Ellis-van Creveld syndrome is a disease 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 children who have Ellis-van Creveld syndrome, although patients who have less severe deformities can often achieve a normal life expectancy. Doctors and physiotherapists help people learn to manage their conditions throughout their lives.
Physicians Richard Ellis and Simon van Creveld described the condition in detail in 1940, although they were unaware of the underlying genetic causes at the time. Recent studies have shown that Ellis-van Creveld syndrome occurs when there is a major mutation on the EVC gene, also named after the pair of doctors. The disorder is autosomal recessive, meaning both parents must carry a copy of the mutated gene for it to be expressed in their child.
A child with Ellis-van Creveld syndrome is likely to show a variety of skeletal abnormalities. Polydactyly, the presence of one or more additional digits, is common. The bones in the arm and leg 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 usually unaffected 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 may administer X-rays and computed tomography scans to determine the severity of the defects. Genetic testing is done to confirm that the EVC gene is involved. Newborns with heart or lung problems are usually taken straight to the intensive care unit for immediate oxygen therapy, medical care, and surgery to prevent life-threatening complications.
Once the body systems have stabilized and a baby is able to cry, breathe and eat without assistance, the family can go home. Regular checkups are essential throughout infancy and childhood to monitor the ongoing development of the skeletal and muscular systems. Growth occurs very slowly and a patient is likely to have very short stature and permanent physical limitations. Surgeries can be done at different stages in childhood and adulthood to remove extra toes and strengthen bones. With physical therapy, an individual can overcome obstacles and learn to live independently.
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