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Ring Chromosome 15 Syndrome

Last updated April 21, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Ring Chromosome 15 Syndrome is a chromosome abnormality that affects growth, learning, and speech.


What are the other Names for this Condition? (Also known as/Synonyms)

  • R15 Syndrome
  • Ring 15 Syndrome

What is Ring Chromosome 15 Syndrome? (Definition/Background Information)

  • Ring Chromosome 15 Syndrome is a chromosome abnormality that affects growth, learning, and speech. People with Ring Chromosome 15 Syndrome often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities
  • Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots
  • Ring Chromosome 15 Syndrome is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together
  • The features of Ring Chromosome 15 Syndrome appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15
  • Ring Chromosome 15 Syndrome is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a Ring Chromosome 15 Syndrome, or from a parent who has a balanced translocation
  • Treatment for Ring Chromosome 15 Syndrome is focused on addressing the symptoms present in each individual and may require a team of medical specialists

(Source: Ring Chromosome 15 Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Ring Chromosome 15 Syndrome? (Age and Sex Distribution)

  • Ring Chromosome 15 Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Ring Chromosome 15 Syndrome? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Ring Chromosome 15 Syndrome can be inherited (in rare cases)
  • Currently, no other risk factors have been clearly identified for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Ring Chromosome 15 Syndrome? (Etiology)

Ring Chromosome 15 Syndrome is caused by an abnormal chromosome known as a ring chromosome 15 or r(15).

  • A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together
  • The features of Ring Chromosome 15 Syndrome appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15
  • Ring Chromosome 15 Syndrome is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a Ring Chromosome 15 Syndrome, or from a parent who has a balanced translocation

(Source: Ring Chromosome 15 Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Ring Chromosome 15 Syndrome?

  • People with Ring Chromosome 15 Syndrome often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities
  • Other signs and symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots

(Source: Ring Chromosome 15 Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Ring Chromosome 15 Syndrome Diagnosed?

Ring Chromosome 15 Syndrome is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Ring Chromosome 15 Syndrome?

The complications of Ring Chromosome 15 Syndrome may include:

  • Heart and kidney abnormalities
  • Intellectual impairment

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Ring Chromosome 15 Syndrome Treated?

There is no cure for Ring Chromosome 15 Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Ring Chromosome 15 Syndrome be Prevented?

Currently, Ring Chromosome 15 Syndrome may not be preventable, since it is a genetic disorder.

  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Ring Chromosome 15 Syndrome? (Outcomes/Resolutions) 

  • The prognosis of Ring Chromosome 15 Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
  • Individuals with mild conditions have better prognosis than those with severe symptoms and complications
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Ring Chromosome 15 Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 21, 2018
Last updated: April 21, 2018