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Disease Profile

Ring chromosome 14

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

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ICD-10

Q93.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Chromosome 14 ring; Ring 14; Ring chromosome 14 syndrome

Categories

Chromosome Disorders; Congenital and Genetic Diseases; Nervous System Diseases

Summary

Ring chromosome 14 is a rare chromosome abnormality that causes ring chromosome 14 syndrome (written as r(14) syndrome), which affects many parts of the body. Signs and symptoms of r(14) syndrome vary from person to person but often include distinctive facial features, developmental delay and intellectual disability, autism spectrum disorder, intractable (hard to control) epilepsy, and occasional eye and vision abnormalities. Intellectual disability ranges from moderate to severe, likely depending on the severity of seizures and age they begin (earlier onset is associated with more severe disability). Severity and frequency of seizures may improve over time. Other signs and symptoms may include a small head size (microcephaly), low muscle tone (hypotonia), scoliosis, and increased susceptibility to infections.

Ring chromosomes almost always occur sporadically (by chance), occurring for the first time in people with no family history of chromosome disorders.[1][2] In these cases, it occurs as a random event when egg or sperm cells are formed, or very soon after the egg and sperm join together.[2] Researchers believe that several important genes near the end of the long arm of chromosome 14 are lost (deleted) when the ring forms, likely leading to some of the features of r(14) syndrome.[2]

Management depends on the symptoms in each person and often requires a team of specialists to address each medical issue. Because symptoms and severity can vary, the long-term outlook (prognosis) is difficult to predict and depends mainly on the health issues present and complications that may arise.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Pigmentary retinopathy
0000580
Percent of people who have these symptoms is not available through HPO
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Dolichocephaly
Long, narrow head
Tall and narrow skull

[ more ]

0000268
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Flat occiput
0005469
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Global developmental delay
0001263
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

0001510
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Poor speech
0002465
Short neck
Decreased length of neck
0000470
Sporadic
No previous family history
0003745
Status epilepticus
Repeated seizures without recovery between them
0002133

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • Genetics Home Reference (GHR) contains information on Ring chromosome 14. This website is maintained by the National Library of Medicine.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
    • Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about ring chromosome 14.

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Ring chromosome 14. Click on the link to view a sample search on this topic.

        Selected Full-Text Journal Articles

          References

          1. Rinaldi B, Vaisfeld A, Amarri, S, et al. Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force. Orphanet J Rare Dis. 2017; 12:69:https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0606-4.
          2. Ring chromosome 14 syndrome. Genetics Home Reference. October, 2015; https://ghr.nlm.nih.gov/condition/ring-chromosome-14-syndrome.