Erondu–Cymet syndrome is a syndrome caused by a translocation on the 21st chromosome. The genetic

karyotype A karyotype is the general appearance of the complete set of metaphase chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. Karyotyping is the process by which a karyotype is disce ...

for people with this condition is 46, XY, inv(21)(q11.2q22.1). Findings in these patients include

hypotension Hypotension is low blood pressure. Blood pressure is the force of blood pushing against the walls of the arteries as the heart pumps out blood. Blood pressure is indicated by two numbers, the systolic blood pressure (the top number) and the dias ...

hypoxemia Hypoxemia is an abnormally low level of oxygen in the blood. More specifically, it is oxygen deficiency in arterial blood. Hypoxemia has many causes, and often causes hypoxia as the blood is not supplying enough oxygen to the tissues of the body ...

seizure An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with los ...

s, and impairment of

cognitive ability Cognitive skills, also called cognitive functions, cognitive abilities or cognitive capacities, are brain-based skills which are needed in acquisition of knowledge, manipulation of information and reasoning. They have more to do with the mechanisms ...

. Patients with this condition may have persistent left

superior vena cava The superior vena cava (SVC) is the superior of the two venae cavae, the great venous trunks that return deoxygenated blood from the systemic circulation to the right atrium of the heart. It is a large-diameter (24 mm) short length vein th ...

that drains into the

left atrium The atrium ( la, ātrium, , entry hall) is one of two upper chambers in the heart that receives blood from the circulatory system. The blood in the atria is pumped into the heart ventricles through the atrioventricular valves. There are two atr ...

, as well as pulmonary

arteriovenous malformations Arteriovenous malformation is an abnormal connection between arteries and veins, bypassing the capillary system. This vascular anomaly is widely known because of its occurrence in the central nervous system (usually cerebral AVM), but can app ...

. Erondu–Cymet syndrome was discovered in 2006 by Ugochi Erondu and

Tyler Cymet Tyler C. Cymet, D.O., FACP, FACOFP, FACHT (born 1963 Smithtown, New York) is a physician in Baltimore, Maryland. Cymet attended Emory University for his premedical undergraduate degree and majored in psychology and anthropology. He then attend ...

References

Genetic disorders with no OMIM Syndromes {{genetic-disorder-stub

See also

References