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Disease Profile
22q11.2 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.
Unknown
Age of onset
All ages
ICD-10
D82.1
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 22q11.2 deletion syndrome; Velocardiofacial syndrome; VCFS;
Categories
Chromosome Disorders; Congenital and Genetic Diseases; Digestive Diseases;
Summary
22q11.2
Symptoms
- Heart defects (74% of individuals)
- Abnormalities with the development of the palate (69% of individuals)
- Characteristic facial features (elongated face, almond-shaped eyes, wide nose, and small ears)
- Learning difficulties (70-90% of individuals)
- Immune system problems (77% of individuals)
Additional symptoms may include:[2]
- Low levels of calcium (50% of individuals)
- Significant feeding problems
- Kidney anomalies (31% of individuals)
Hearing loss - Issues with the development of the larynx, trachea, and esophagus (laryngotracheoesophageal anomalies)
- Growth hormone deficiency
- Autoimmune disorders (
thrombocytopenia , juvenile rheumatoid arthritis, overactive thyroid) Seizures - Skeletal abnormalities (extra fingers, toes, or ribs, wedge-shaped spinal bones,
craniosynostosis ) - Psychiatric illness
- Eye abnormalities (
ptosis , coloboma,cataract , andstrabismus ) Central nervous system abnormalities
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 | ||||
Abnormal aortic arch morphology | 0012303 | |||
Abnormal pulmonary valve morphology | 0001641 | |||
Abnormality of the pharynx | 0000600 | |||
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 | ||
Bulbous nose | 0000414 | |||
Cleft roof of mouth
|
0000175 | |||
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 | ||
Dysphasia | 0002357 | |||
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 | ||
Hypoplasia of the thymus |
Small thymus
|
0000778 | ||
Decreased immune function
|
0002721 | |||
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 | ||
Muscular |
Low or weak muscle tone
|
0001252 | ||
Nasal speech |
Nasal voice
|
0001611 | ||
Platybasia | 0002691 | |||
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 | ||
Telecanthus |
Corners of eye widely separated
|
0000506 | ||
Tetralogy of Fallot | 0001636 | |||
Truncus arteriosus | 0001660 | |||
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 | ||
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 | ||
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 | ||
30%-79% of people have these symptoms | ||||
Abnormality of the tonsils | 0100765 | |||
Acne | 0001061 | |||
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 | ||
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 | ||
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 | ||
Chronic otitis media |
Chronic infections of the middle ear
|
0000389 | ||
Constipation | 0002019 | |||
Corneal neovascularization |
New blood vessel formation in cornea
|
0011496 | ||
Global developmental delay | 0001263 | |||
Hypocalcemia |
Low blood calcium levels
|
0002901 | ||
Hypoparathyroidism |
Decreased parathyroid hormone secretion
|
0000829 | ||
Impaired T |
T-cell dysfunction
|
0005435 | ||
Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | ||
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 | ||
Long philtrum | 0000343 | |||
Malar flattening |
Zygomatic flattening
|
0000272 | ||
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 | ||
Occipital myelomeningocele | 0007271 | |||
Overfolded helix |
Overfolded ears
|
0000396 | ||
Posterior embryotoxon | 0000627 | |||
Ptosis |
Drooping upper eyelid
|
0000508 | ||
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ] |
0000089 | ||
Seborrheic dermatitis | 0001051 | |||
Short neck |
Decreased length of neck
|
0000470 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |||
Small earlobe |
Small earlobes
|
0000385 | ||
Specific learning disability | 0001328 | |||
Tetany |
Intermittent involuntary muscle spasm
|
0001281 | ||
Thin upper lip vermilion |
Thin upper lip
|
0000219 | ||
5%-29% of peopl
Cause 22q11.2
Most people with 22q11.2 deletion syndrome are missing a piece of chromosome 22 that contains about 30 to 40 Related diseasesRelated 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.
OrganizationsSupport 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
Learn moreThese 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
In-Depth Information
Selected Full-Text Journal Articles
References
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