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Disease Profile

12q14 microdeletion syndrome

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.


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)

Osteopoikilosis-short stature-intellectual disability syndrome; Del(12)(q14); Deletion 12q14;


Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases


12q14 microdeletion syndrome is a genetic syndrome caused by a missing piece of chromosome 12. The signs and symptoms depend on the size of the missing piece and the genes involved, but generally include growth delay, short stature and feeding difficulties. When this syndrome is inherited, it is passed on in a dominant pattern. It can be diagnosed through a genetic test, either a chromosomal microarray or whole exome sequencing.[1][2][3]


The signs and symptoms of 12q14 microdeletion syndrome can be different from person to person depending on the size of the missing piece of chromosome and the genes involved.[2][4] In general, people with this syndrome have growth delay that starts before they are born, short stature, and poor weight gain. They may have feeding difficulties, speech and developmental delay, and mild intellectual disability. Some people with this syndrome have a triangular shaped face and a large forehead. Many have small areas of increased bone density that show up as bright spots on x-rays, a condition called osteopoikilosis.[2] Osteopoikilosis does not cause pain or other symptoms.

It has been suggested 12q14 microdeletions that include the HMGA2 gene cause some cases of Russell-Silver syndrome, because people with Russell-Silver syndrome and people with 12q14 microdeletion syndromes have similar signs and symptoms.[1]


12q14 microdeletion syndrome can be diagnosed through genetic testing, either a chromosomal microarray test or whole exome sequencing. Both tests can determine the size of the microdeletion and which genes are missing.[2][4]


There is no specific treatment for 12q14 microdeletion syndrome. Growth problems may be treated with growth hormone therapy.[4] If developmental delay or an intellectual disability is present, early educational intervention and early services can be helpful.


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

    Organizations Providing General Support

      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

      • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 12q14 microdeletion syndrome.

        In-Depth Information

        • PubMed is a searchable database of medical literature and lists journal articles that discuss 12q14 microdeletion syndrome. Click on the link to view a sample search on this topic.


          1. Leszinski GS, Warncke K, Hoefele J, Wagner M. A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome. Gene. Jul 2018; 663:110-114. https://www.ncbi.nlm.nih.gov/pubmed/29655892.
          2. Fischetto R, Palumbo O, Ortolani F, Palumbo P, et al. Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. AM J Med Genet A. Apr 2017; ajmg.a.38253:https://www.ncbi.nlm.nih.gov/pubmed/28407409.
          3. 12q14 microdeletion syndrome. Orphanet. 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063. Accessed 12/5/2018.
          4. Heldt F, Wallaschek H, Ripperger T, Morlot S, et al. 12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature. Eur J Med Genet. Mar 2018; s1769-7212(17):30479-2. https://www.ncbi.nlm.nih.gov/pubmed/29501611.

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