Rare Primary Care News

Disease Profile

Ring chromosome 16

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

US Estimated

Europe Estimated

Age of onset





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


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.


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.


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


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.


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.


Not applicable


Other names (AKA)

Chromosome 16 ring; Ring 16; R16


Chromosome Disorders; Congenital and Genetic Diseases


Ring chromosome 16 is characterized by postnatal growth deficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.[1][2][3][4] To date, less than 10 cases have been reported in the medical literature.[4]


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.

    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.
    • 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 16. Click on the link to view a sample search on this topic.


      1. Conte RA, Kleyman SM, Kharode C, Verma RS. Delineation of a ring chromosome 16 by the FISH-technique: a case report with review. Clin Genet. 1997 Mar;51(3):196-9. .
      2. Neidengard L, Sparkes RS. Ring chromosome 16. Hum Genet. 1981;59(2):175-7. .
      3. Chodirker BN, Ray M, McAlpine PJ, Riordan D, Vust A, Pugh D, Chudley AE. Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16. Am J Med Genet. 1988 Sep;31(1):145-51. .
      4. He W, Tuck-Muller CM, Martínez JE, Li S, Rowley ER, Wertelecki W. Molecular characterization of a ring chromosome 16 from a patient with bilateral cataracts. Am J Med Genet. 2002 Jan 1;107(1):12-7. .