Ring14 is a very rare genetic disorder caused by a mutation in the 14th chromosome. The ends of the chromosome fuse together, forming a ring structure — hence the name “Ring14 syndrome.” Genetic material is often, though not always, lost from this mutation, but serious health consequences tend to result either way.
Symptoms
Symptoms of Ring14 vary from person to person, but they are usually very significant. Some of the most frequent symptoms include:
- low muscle tone,
- slow growth,
- mild to severe learning disabilities,
- limited motor skills,
- digestive problems,
- immune deficiencies, and
- a severe form of epilepsy that is mostly drug resistant.
Daily life is a struggle for these children. Children with other anomalies on the 14th chromosome (such as the deletion or translocation of chromosome parts) tend to share many of these same problems.
Diagnosis
Symptoms such as physical and retinal anomalies, early seizures, and motor and mental delays may suggest a preliminary genetic test. The Ring14 anomaly is easily diagnosed by a conventional chromosome analysis, such as a karyotype, although further genetic tests may be conducted to clearly define it at a molecular level. Because symptoms vary from person to person, different individuals may require a different series of diagnostic tests to confirm the Ring14 anomaly.
Guidelines for Care
In 2017, our scientific community was able to publish its first guidelines for care paper for patients with Ring14 Syndrome to be used by physicians and caretakers. “Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force.“
Technical Definition from Giovannini et al., 2010
Ring14 Syndrome is a rare cytogenetic disorder, reported so far in about 50 patients, caused by the fusion of two broken chromosome ends which form a ring chromosome, usually associated with loss of a small amount of genetic material. A recognizable phenotype consisting of psychomotor delay, cognitive disability, hypotonia, feeding and growth difficulties, microcephaly, ocular retinal abnormalities and seizures is based on an accurate clinical and genetic characterization that emerged from a series of 20 patients included in the Ring 14 Association Database (Zollino et al., 2009). Dysmorphic features are usually mild and include a high and prominent forehead, an elongated face with puffy cheeks, widely spaced eyes with blepharophimosis and epicanthus, a flat nasal bridge with a prominent nasal tip and low-set ears (Zollinoet al., 2009; Van Karnebeek et al., 2002).