General
Erondu–Cymet syndrome is a very rare genetically determined congenital syndrome first described in 2006 by Ugochi Erondu and Tyler Cymet. The cause is a congenital abnormality of chromosome 21. In Erondu–Cymet syndrome, this involves a chromosomal inversion, meaning that a segment of the chromosome breaks off, rotates by 180°, and then reattaches in the reversed orientation.
Symptoms
Affected individuals have mildly reduced intellectual abilities, suffer from low blood pressure, and may experience epileptic seizures. Various cardiovascular abnormalities may also be present, such as abnormalities of the pulmonary vessels or the superior vena cava.
Diagnosis
For correct diagnosis, genetic testing is required. A sample of the patient’s cells (usually white blood cells obtained from a blood sample) is taken and their chromosomal complement is analyzed.
Treatment
The syndrome is congenital; therefore, prevention and causal treatment are not available. Management is symptomatic, focusing on treatment of individual manifestations.
- low blood pressure
- epileptic seizures
- behavioral disorders
- abnormalities of the pulmonary vessels or the superior vena cava
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