Rare Neurology News

Disease Profile

22q11.2 duplication 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.

Unknown

Age of onset

All ages

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ICD-10

Q92.3

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)

22q11.2 duplication; 22q11.2 microduplication syndrome; Chromosome 22q11.2 duplication syndrome

Categories

Chromosome Disorders; Congenital and Genetic Diseases

Summary

22q11.2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. The features of this condition vary widely, even among members of the same family (intrafamilial variability). Affected individuals may have intellectual or learning disability, developmental delay, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the condition have no apparent physical or intellectual disabilities. It is inherited in an autosomal dominant manner. While many affected people inherit the condition from a parent, others are affected due to having a new mutation that occurs for the first time. In either case, the condition can be passed on to children.[1] Researchers are working to determine which duplicated genes may contribute to the developmental delay and other problems that sometimes affect people with this condition. The duplication is not detectable by karyotype and most cases are identified by a technique known as chromosomal microarray. Treatment depends on the symptoms in each person and includes an individualized educational program.[2]

Symptoms

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
30%-79% of people have these symptoms
Abnormality of the pharynx
0000600
Cleft palate
Cleft roof of mouth
0000175
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
Depressed nasal ridge
Flat nose
Recessed nasal ridge

[ more ]

0000457
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Global developmental delay
0001263
High forehead
0000348
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Muscular hypotonia
Low or weak muscle tone
0001252
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

0000275
Nasal speech
Nasal voice
0001611
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment

[ more ]

0002167
5%-29% of people have these symptoms
Abnormality of immune system physiology
0010978
Anterior creases of earlobe
Earlobe crease
0009908
Anxiety
Excessive, persistent worry and fear
0000739
Aplasia/Hypoplasia of the thymus
Absent/small thymus
Absent/underdeveloped thymus

[ more ]

0010515
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder

[ more ]

0007018
Autism
0000717
Displacement of the urethral meatus
0100627
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

0001510
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hydronephrosis
0000126
Hypoplastic left heart
Underdeveloped left heart
0004383
Interrupted aortic arch
0011611
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Obsessive-compulsive behavior
Obsessive compulsive behavior
0000722
Ptosis
Drooping upper eyelid
0000508
Scoliosis
0002650
Seizure
0001250
Smooth philtrum
0000319
Stereotypy
Repetitive movements
Repetitive or self-injurious behavior

[ more ]

0000733
Tetralogy of Fallot
0001636
Transposition of the great arteries
0001669
Urethral stenosis
Narrowing of the urethra
0008661
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Wide nose
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose

[ more ]

0000445
Percent of people who have these symptoms is not available through HPO
Abnormality of cardiovascular system morphology
0030680
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears

[ more ]

0000377
Autosomal dominant inheritance
0000006
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Specific learning disability
0001328
Sporadic
No previous family history
0003745
Velopharyngeal insufficiency
Velopharyngeal incompetence
0000220

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    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

      Social Networking Websites

        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

        • Genetics Home Reference (GHR) contains information on 22q11.2 duplication 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 22q11.2 duplication 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 22q11.2 duplication syndrome. Click on the link to view a sample search on this topic.

            References

            1. 22q11.2 duplication. Genetics Home Reference. 2015; https://ghr.nlm.nih.gov/condition/22q112-duplication.
            2. Firth HV. 22q11.2 Duplication. GeneReviews. November, 2013; https://www.ncbi.nlm.nih.gov/books/NBK3823/.