Rare Endocrinology News
Disease Profile
16p11.2 deletion 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.
1-5 / 10 000
Age of onset
Childhood
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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 16p11.2 deletion syndrome; Del(16)(p11.2); Monosomy 16p11.2;
Categories
Chromosome Disorders; Congenital and Genetic Diseases
Summary
16p11.2
Symptoms
Affected people are at increased risk for obesity, and may be at increased risk for
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 |
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 roof of mouth
|
0000175 | |
0000776 | ||
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Hand |
Extra finger
|
0001161 |
Hemivertebrae |
Missing part of vertebrae
|
0002937 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Muscular |
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 | |
0002650 | ||
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 | ||
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 |
Related diseases
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.
|
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
-
Autism Society of America
4340 East-West Highway, Suite 350
Bethesda, MD 20814-3067
Toll-free: 800-328-8476
Telephone: 301-657-0881
E-mail: [email protected]
Website: https://www.autism-society.org -
Autism Speaks
1 East 33rd St.
4th Floor
New York, NY 10016
Telephone: 212-252-8584
Fax: 212-252-8676
E-mail: [email protected]
Website: https://www.autismspeaks.org -
Simons Searchlight
Toll-free: +1-855-329-5638
Fax: +1-570-214-7327
E-mail: [email protected]
Website: https://www.simonssearchlight.org/ -
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: [email protected]
Website: https://www.rarechromo.org/
Organizations Providing General Support
-
American Association on Intellectual and Developmental Disabilities
501 3rd Street NW
Suite 200
Washington, DC 20001
Toll-free: (800) 424-3688
Telephone: (202) 387-1968
Fax: (202) 387-2193
Website: https://www.aaidd.org -
The Society for Developmental and Behavioral Pediatrics
6728 Old McLean Village Drive
McLean, VA 22101
Telephone: 703-556-9222
E-mail: [email protected]
Website: https://www.sdbp.org/index.cfm
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
- 16p11.2 deletion syndrome. Genetics Home Reference. November 2009; https://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome. Accessed 7/6/2011.
- David T Miller, et. al. 16p11.2 Microdeletion. GeneReviews. October 27, 2011; https://www.ncbi.nlm.nih.gov/books/NBK11167/. Accessed 9/22/2014.
- 16p11.2 deletion syndrome. Genetics Home Reference. September, 2014; https://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome. Accessed 9/23/2014.
- 16p11.2 deletion syndrome. Genetics Home Reference. November 2009; https://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome. Accessed 4/16/2013.
- David T Miller et al. 16p11.2 Microdeletion. GeneReviews. October 27, 2011; https://www.ncbi.nlm.nih.gov/books/NBK11167/. Accessed 4/16/2013.
Rare Endocrinology News