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Disease Profile

16p11.2 deletion syndrome

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.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Childhood

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ICD-10

Q93.5

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.

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 16p11.2 deletion syndrome; Del(16)(p11.2); Monosomy 16p11.2;

Categories

Chromosome Disorders; Congenital and Genetic Diseases

Summary

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]

Symptoms

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]

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
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

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

    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

      • MedlinePlus Genetics 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.

          References

          1. 16p11.2 deletion syndrome. Genetics Home Reference. November 2009; https://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; https://www.ncbi.nlm.nih.gov/books/NBK11167/. Accessed 9/22/2014.
          3. 16p11.2 deletion syndrome. Genetics Home Reference. September, 2014; https://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome. Accessed 9/23/2014.
          4. 16p11.2 deletion syndrome. Genetics Home Reference. November 2009; https://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; https://www.ncbi.nlm.nih.gov/books/NBK11167/. Accessed 4/16/2013.

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