National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

16p11.2 deletion syndrome


Other Names:
Chromosome 16p11.2 deletion syndrome; Del(16)(p11.2); Monosomy 16p11.2; Chromosome 16p11.2 deletion syndrome; Del(16)(p11.2); Monosomy 16p11.2; Microdeletion 16p11.2 See More
Categories:
16p11.2 deletion syndrome is a condition caused by a missing piece (deletion) on a specific region of chromosome 16 designated as p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorder. Some affected people have minor physical abnormalities; however, signs and symptoms vary. Some affected people appear to have no physical, intellectual, or behavioral abnormalities. Most cases of 16p11.2 deletion syndrome are not inherited, although affected people can pass the condition on to their children.[1]
Last updated: 9/22/2014
16p11.2 deletion syndrome is mainly characterized by some degree of developmental delay, intellectual disability, and/or autism spectrum disorder (ASD). Developmental delays tend to affect language and cognitive function more than motor function. IQ scores range from mild disability to normal, but those in the normal range typically have other developmental issues such as language delay or ASD.[2] Some people with the deletion have no identified issues or abnormalities.[3]

Affected people are at increased risk for obesity, and may be at increased risk for seizures and relatively minor heart defects. There is generally not an increased risk for other conditions or medical problems. While people with 16p11.2 deletion syndrome do not have a characteristic pattern of distinctive physical features, several studies have reported various features in affected people.[2]
Last updated: 9/23/2014

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Global developmental delay 0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Language impairment 0002463
30%-79% of people have these symptoms
Autism 0000717
Broad forehead
Increased width of the forehead
Wide forehead
[ more ] 		0000337
EEG abnormality 0002353
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Malar flattening
Zygomatic flattening
0000272
Seizure 0001250
5%-29% of people have these symptoms
Anophthalmia
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ] 		0000528
Aortic regurgitation 0001659
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] 		0007018
Cleft palate
Cleft roof of mouth
0000175
Congenital diaphragmatic hernia 0000776
Feeding difficulties
Feeding problems
Poor feeding
[ more ] 		0011968
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ] 		0002020
Hand polydactyly
Extra finger
0001161
Hemivertebrae
Missing part of vertebrae
0002937
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Microphthalmia
Abnormally small eyeball
0000568
Muscular hypotonia
Low or weak muscle tone
0001252
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Obesity
Having too much body fat
0001513
Optic nerve coloboma 0000588
Psychosis 0000709
Pyloric stenosis 0002021
Scoliosis 0002650
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Syringomyelia
Fluid-filled cyst in spinal cord
0003396
Ventriculomegaly 0002119
1%-4% of people have these symptoms
Feeding difficulties in infancy 0008872
Motor delay 0001270
Percent of people who have these symptoms is not available through HPO
Contiguous gene syndrome 0001466
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] 		0000750
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] 		0011800
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Last updated: 7/1/2020
Most cases of 16p11.2 deletion syndrome are not inherited and occur due to a random event during the formation of the egg or sperm, or in early fetal development. When this happens, it is called a de novo deletion (occurring as a new genetic change for the first time in the affected person).[4][5]

The inheritance of 16p11.2 deletion syndrome is autosomal dominant because a deletion in only one copy of chromosome 16 in each cell is sufficient to cause the condition. Although affected individuals typically have no history of the condition in their family, they can still pass the condition to their children. There have been several reported cases of the syndrome being inherited.[4] When an affected person has children, each child has a 50% (1 in 2) risk to inherit the deletion.
Last updated: 9/22/2014
We are not aware of long-term follow-up data for people with 16p11.2 deletion syndrome. The long-term outlook (prognosis) for affected people likely depends on the specific features and severity in each person. Some affected people may have congenital abnormalities such as a heart defect, while others have no identifiable signs or symptoms.
Last updated: 9/23/2014

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes many entities presenting with a developmental delay with or without autistic features and minor dysmorphisms.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to 16p11.2 deletion syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with 16p11.2 deletion syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for 16p11.2 deletion syndrome:
    Simons SearchLight
     

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

  • Simons VIP Connect is an online community for families with 16p11.2 deletions and duplications. Click on the link to learn more about this community and how to register.

Organizations Providing General Support

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 16p11.2 deletion syndrome. This website is maintained by the National Library of Medicine.
  • 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 16p11.2 deletion syndrome.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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 16p11.2 deletion syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. 16p11.2 deletion syndrome. Genetics Home Reference. November 2009; http://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome. Accessed 7/6/2011.
  2. David T Miller, et. al. 16p11.2 Microdeletion. GeneReviews. October 27, 2011; http://www.ncbi.nlm.nih.gov/books/NBK11167/. Accessed 9/22/2014.
  3. 16p11.2 deletion syndrome. Genetics Home Reference. September, 2014; http://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome. Accessed 9/23/2014.
  4. 16p11.2 deletion syndrome. Genetics Home Reference. November 2009; http://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome. Accessed 4/16/2013.
  5. David T Miller et al. 16p11.2 Microdeletion. GeneReviews. October 27, 2011; http://www.ncbi.nlm.nih.gov/books/NBK11167/. Accessed 4/16/2013.