Velocardiofacial syndrome 22q11 deletion syndrome. Medical search. Frequent questions

This condition has several different names: 22q11.2 deletion syndrome, velocardiofacial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome. (wikipedia.org)
It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (harvard.edu)
Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. (medlineplus.gov)
DiGeorge syndrome (ie, hypoparathyroidism, absence of thymus gland [T-cell abnormalities], cardiac anomalies) is associated with abnormal development of the third and fourth pharyngeal pouches from which the parathyroids derive embryologically and represents an example of a defect in parathyroid gland development. (medscape.com)
DiGeorge syndrome and velocardiofacial syndrome are variants of the chromosome arm 22q11 microdeletion syndrome. (medscape.com)
Several cases of chromosome 10p deletion have also been reported in which affected individuals have some features of DiGeorge syndrome. (medscape.com)
1. A hemizygous deletion of chromosome 22q11.2 can result in a spectrum of clinical disease including velocardiofacial syndrome (VCFS) and DiGeorge syndrome (DGS). (immunodeficiencysearch.com)
Deletion of chromosome 22q11.2 can result in a spectrum of clinical disease ranging from velocardiofacial syndrome (VCFS) to DiGeorge syndrome (DGS). (immunodeficiencysearch.com)
DiGeorge Syndrome DiGeorge syndrome is thymic and parathyroid hypoplasia or aplasia leading to T-cell immunodeficiency and hypoparathyroidism. (msdmanuals.com)
Infants with DiGeorge syndrome have low-set ears, midline facial. (msdmanuals.com)
INTRODUCTION - DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated with defective development of the pharyngeal pouch system. (medilib.ir)
Available at: http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/DiGeorge-Syndrome_UCM_309017_Article.jsp. (epnet.com)
Chromosome 22q11.2 microdeletions result in a variable spectrum of clinical phenotypes including DiGeorge syndrome (DGS) and velocardiofacial syndrome. (irjs.info)

Velocardiofacial syndrome (VCFS) is a genetic condition characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and the conotruncal region of the heart. (medscape.com)
Velocardiofacial syndrome (VCFS) is caused by a deletion (microdeletion) at the q11.2 band, which is located on the long arm (q) of chromosome 22 (see the images below). (medscape.com)
We report three cases of velocardiofacial syndrome (VCFS) with anal anomalies who have deletions of the 22q11 region and a further case where the proband has VCFS clinically and her father has an anal anomaly. (bmj.com)
It is important to consider VCFS in the differential diagnosis of children with anal anomalies and to look for other features of the syndrome, such as asymmetrical crying facies, submucous cleft of the palate, developmental delay, cardiac anomalies, and hypoparathyroidism. (bmj.com)
The 22q11.2 microdeletion is responsible for the DiGeorge and Velocardiofacial Syndromes (DG/VCFS) (OMIM #188400 and #192430). (biomedcentral.com)
Babayeuski R, Ortega V, Mendiola C, Jatoi I, Velagaleti G (2016) Colonic Adenocarcinoma in a Patient with Velo Cardio Facial Syndrome (VCFS) and 22q11.2 Microdeletion. (scitechnol.com)

Chromosome 22q11.2 microdeletion syndrome is an umbrella term that encompasses various phenotypes, and is the most common microdeletion syndrome in humans. (scitechnol.com)
The 22q11 microdeletion syndrome is one of the most common microdeletions in humans with an estimated incidence of 1 in 2000 to 6395 newborns. (scitechnol.com)
driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome. (123dok.org)

Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. (orpha.net)
The differential diagnosis for patients with distal monosomy 10p should include deletion 22q11 syndrome and other causes of hypoparathyroidism, depending on the phenotype. (orpha.net)
2) Many cases of anterior glottic webs have been reported to be associated with deletion of chromosome 22q11, causing a wide range of phenotype like Di George syndrome, velocardiofacial syndrome or shprintzen syndrome. (pediatriconcall.com)
Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation. (harvard.edu)
2. Although the most common deletion includes a region containing more than 35 genes, the TBX1 gene has emerged as one of the most likely causes of the DGS phenotype. (immunodeficiencysearch.com)
Chromosome 10p deletions and CHD7 mutations can also result in a DGS clinical phenotype. (immunodeficiencysearch.com)
Of the patients who have a DGS phenotype, 90% have a 22q11.2 deletion (10% have other molecular etiologies such as 10p deletion, 17p13 deletion, 18q21 deletion, and CHD7 mutations). (immunodeficiencysearch.com)

Many children with 22q11.2 deletion syndrome have developmental delays, including delayed growth and speech development, and some have mild intellectual disability or learning disabilities. (medlineplus.gov)

Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome? (bmj.com)
Velocardiofacial syndrome, also called Shprintzen syndrome or DiGeorge sequence, is one of the most common genetic disorders in humans. (researchgate.net)

22q11.2 deletion syndrome, formerly known as DiGeorge or velocardiofacial syndrome, is a multisystem disorder with variable severity and number of associated features, classically including developmental delay, learning difficulties, congenital cardiac anomalies, palatal abnormalities, especially velopharyngeal insufficiency, hypocalcemia, and subtle facial dysmorphism. (unboundmedicine.com)

Hypocalcemia associated with a 22q11 microdeletion may be transiently present in infancy but recur later in life, particularly during periods of stress. (medscape.com)
In this study, significant hypocalcemia and lymphopenia occurred more frequently in CHARGE syndrome patients than in 22q11.2 deletion syndrome patients. (irjs.info)
Ninety percent of patients diagnosed with DGS Navitoclax tyrosianse inhibitor (cardiac anomalies, hypocalcemia, immune deficiency) and velocardiofacial syndrome (cardiac anomalies, pharyngeal dysfunction, dysmorphic facies) have a hemizygous 22q11.2 deletion 14. (irjs.info)

Reports indicate that some patients with velocardiofacial syndrome may be mistakenly categorized as having CHARGE syndrome (ie, coloboma, heart defect, atresia choanae, retarded growth and development, and/or CNS anomalies, genital hypoplasia, and ear anomalies and/or deafness). (medscape.com)
4. Low T-cell numbers are present in 80% of patients with 22q11.2 deletion syndrome as a result of thymic hypoplasia. (immunodeficiencysearch.com)
Up to 80% of patients with 22q11.2 deletion will have decreased T-cell numbers as a result of thymic hypoplasia. (immunodeficiencysearch.com)
Results Features found more commonly in CHARGE syndrome included coloboma, choanal atresia, facial nerve palsy, tracheoesophageal fistula, and genital hypoplasia in males. (irjs.info)
Conclusion The presence of coloboma, choanal atresia, facial nerve palsy, tracheoesophageal fistula, or genital hypoplasia in males should alert the clinician to the possibility of CHARGE syndrome rather than the 22q11.2 deletion. (irjs.info)
Homozygous TBX-1 knockout mice have been proven to develop center problems, thymic hypoplasia, cleft palate, and irregular cosmetic features similar for some individuals with 22q11.2 deletion 16. (irjs.info)

Other cardiac defects include pulmonary atresia with ventricular septal defect , absent pulmonary valve syndrome, ventricular septal defect (especially when accompanied by aortic arch anomalies), aortic stenosis, anomalies of the aortic arch or its major branches, and pulmonary artery anomalies. (medscape.com)
These syndromes are associated with variable phenotypic features that includes cardiac defects, palate anomalies, characteristic physiognomy, learning difficulties and relatively high frequency of severe mental illness like schizophrenia. (biomedcentral.com)

Karyotype of a patient with a deletion of chromosome region 22q11. (medscape.com)

This chromosomal deletion syndrome is estimated to occur in approximately 1 in 3000 children. (immunodeficiencysearch.com)
While often used interchangeably with DGS, patients with the confirmed chromosomal deletion should be referred to has having 22q11.2 deletion syndrome. (immunodeficiencysearch.com)
Most cases are caused by a heterozygous chromosomal deletion at 22q11.2. (medilib.ir)

Diagnosis requires cytogenetic analysis and molecular characterization and should include a search for a translocation because deletion may be the result of transmission of a derivative chromosome. (orpha.net)
Prenatal diagnosis is feasible and genetic counseling should be proposed and depends on the cytogenetic rearrangement responsible for the deletion ( de novo or translocation). (orpha.net)
Recognition of the features associated with velocardiofacial syndrome allows for an inclusive diagnosis and more comprehensive care. (researchgate.net)
However, this estimate is considered to be artificially low due to under-diagnosis because of extreme clinical heterogeneity associated with this syndrome [ 5 - 8 ]. (scitechnol.com)

Originally, CHARGE was considered to be a non-random association of anomalies rather than a syndrome. (irjs.info)

Although one of the features of 22q11 deletion syndrome is immune deficiency, there are only rare reports of associations between 22q11 deletion and specific malignancies. (scitechnol.com)

Ophthalmologic abnormalities are seen in 70% of patients with velocardiofacial syndrome, such as posterior embryotoxon, bilateral cataracts, tortuous retinal vessels, and small optic disks. (medscape.com)
Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
People with 22q11.2 deletion syndrome commonly have heart abnormalities that are often present from birth, recurrent infections caused by problems with the immune system, and distinctive facial features. (medlineplus.gov)
These results reveal bottom-up neurobiological mechanisms through which peripheral hearing loss arising from the 22q11.2 deletion may promote the emergence of schizophrenia-relevant auditory brain and behavioral abnormalities, and also suggest a link between conductive hearing loss and reduced PV+ interneuron density in the auditory cortex. (biorxiv.org)
These results suggest mechanisms through which hearing loss associated with the 22q11.2 deletion may promote emergence of schizophrenia-relevant auditory brain and behavioral abnormalities and indicate that conductive hearing loss may influence PV+ interneuron density in the auditory cortex. (biorxiv.org)
Multiple recurrent chromosomal abnormalities including 22q deletions have been reported in both primary and metastatic CRC [ 3 ]. (scitechnol.com)

Data from SNP array and whole exome sequencing revealed that individuals with autism had a higher burden of rare exonic copy-number variants altering autism associated genes (deletions ( p = 0.0352) or duplications ( p = 0.0352)), higher inbreeding status ( p = 0.023) and a higher load of rare homozygous deleterious variants ( p = 0.011) compared to controls. (nature.com)
Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia. (22q.ca)

Chromosome 22q11.2 microdeletion is associated with DiGeorge and Velocardiofacial syndromes (DG/VCF) and provides the most convincing evidence of an association between molecular cytogenetic abnormality and schizophrenia. (biomedcentral.com)

These linkage findings indicate that mutations of genes on 22q11 are likely to contribute to susceptibility to schizophrenia. (biomedcentral.com)
Proper analysis can certainly help with hereditary counselling because mutations generally happen sporadically also, whereas 22q11.2 deletions are familial in 10% of instances 9,21. (irjs.info)

This condition is described as a contiguous gene deletion syndrome because it results from the loss of many genes that are close together. (medlineplus.gov)
Researchers are working to identify all of the genes that contribute to the features of 22q11.2 deletion syndrome. (medlineplus.gov)
The most common deletion, a 3 Mb region on chromosome 22, encompasses more than 35 genes. (irjs.info)

Many kinds of disorders are associated with trisomy 22: Emanuel syndrome is named after the genetic contributions made by researcher Dr. Beverly Emanuel. (wikipedia.org)
Once the genetic basis for these disorders was identified, doctors determined that they were all part of a single syndrome with many possible signs and symptoms. (medlineplus.gov)
To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause. (medlineplus.gov)
Genetically inherited forms arise from defects of parathyroid gland development, defects in the parathyroid hormone (PTH) gene, defects in the calcium-sensing receptor gene, defects in PTH action, defects in the autoimmune regulator gene, and genetic syndromes. (medscape.com)

In addition, some children with the 22q11.2 deletion were diagnosed with the autosomal dominant form of Opitz G/BBB syndrome and Cayler cardiofacial syndrome. (medlineplus.gov)

We compared our findings to data available for a large cohort of 22q11.2 deletion syndrome individuals Navitoclax tyrosianse inhibitor followed in our clinical genetics system. (irjs.info)

This syndrome has considerable phenotypic variability, with no single feature being present Navitoclax tyrosianse inhibitor consistently. (irjs.info)

Deletion of chromosomal locus 22q11.2 is associated with both schizophrenia and hearing loss in humans. (biorxiv.org)
LOH, the loss of one allele at a specific locus, is caused by deletion, mutation or loss of the entire chromosome. (scitechnol.com)

Additional features of this syndrome include cleft lip and palate, hearing loss, tracheoesophageal fistula, and cranial nerve dysfunction such as facial nerve palsy 6. (irjs.info)

The incidence of 22q11.2 deletion is estimated to be between 1 in 3900 to 1 1 in 9700 live births 12,13. (irjs.info)

4) Other associations noted are Simpson-Golabi-Behmel syndrome (5), tracheoesophageal fistula (6), ventricular septal defect (7), and VATER (8). (pediatriconcall.com)

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. (harvard.edu)
Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome. (harvard.edu)

8. A severe form of this syndrome resulting from complete thymic aplasia (resulting in near total absence of T-cells) occurs in approximately 1% of patients. (immunodeficiencysearch.com)

As many as 15-20% of patients have Pierre Robin syndrome, which includes small jaw, U-shaped cleft palate, and glossoptosis. (medscape.com)

The lifestyle of distributed features and wide spectral range of medical manifestation of the two syndromes could make preliminary analysis challenging. (irjs.info)

22q11 deletion syndrome is a rare condition which occurs in about one in 4000 births. (wikipedia.org)
The deletion occurs near the middle of the chromosome at a location designated q11.2. (medlineplus.gov)
That is, expression occurs in the organs affected in CHARGE syndrome 11. (irjs.info)

Patients with 22q11.2 Deletion Syndrome (22q11.2DS) have a 25-30% risk of developing schizophrenia, and also suffer frequent hearing loss. (biorxiv.org)
In the Df1 /+ mouse model of human 22q11.2 Deletion Syndrome, we find that hearing loss shapes measures that are considered schizophrenia-relevant endophenotypes, such as central auditory gain and auditory sensorimotor gating. (biorxiv.org)
Meta-analysis of genome scans for bipolar disorder and schizophrenia have also identified chromosome 22q11-13 as one of the strongest linkage regions for both syndromes [ 16 ]. (biomedcentral.com)

Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results. (harvard.edu)

22q11.2 deletion syndrome has many possible signs and symptoms that can affect almost any part of the body. (medlineplus.gov)
Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. (medlineplus.gov)
It is definitely recognized that CHARGE chromosome and symptoms 22q11.2 deletion symptoms possess overlapping phenotypic features. (irjs.info)

Df1 /+ mice have a multi-gene deletion analogous to the chromosomal microdeletion that causes human 22q11.2DS, and like human 22q11.2DS patients exhibit high rates of hearing loss arising primarily from susceptibility to middle ear inflammation. (biorxiv.org)
Approximately 90% of patients with DGS have the 22q11.2 deletion. (immunodeficiencysearch.com)
Patients typically develop erythroderma and rash similar to Omenns syndrome. (immunodeficiencysearch.com)
Early inclusion of immunologists to the multi-disciplinary care team (as with 22q11.2 deletion) may be of great benefit to affected patients. (irjs.info)

Pierre Robin sequence, also known as Pierre Robin syndrome or simply Robin sequence, is a condition in infants that is characterized by a smaller-than-normal mandible Mandible The largest and strongest bone of the face constituting the lower jaw. (lecturio.com)

In addition, variable developmental problems and schizoid features are also associated with this syndrome. (harvard.edu)
The features of this syndrome vary widely, even among affected members of the same family. (medlineplus.gov)
A majority of his features were suggestive of Joubert syndrome--although it was felt that he did not fully meet diagnostic criteria. (researchgate.net)
TBX-1 has emerged as a leading gene responsible for the phenotypic features seen in this syndrome. (irjs.info)

Additionally, affected children are more likely than children without 22q11.2 deletion syndrome to have attention-deficit/hyperactivity disorder (ADHD) and developmental conditions such as autism spectrum disorder that affect communication and social interaction. (medlineplus.gov)

Pathophysiology of the Pierre Robin sequence, justifying its classification as a sequence and not a syndrome. (lecturio.com)
Pierre Robin is a sequence, not a syndrome! (lecturio.com)

Chromosomal fluorescence in situ hybridization (FISH) demonstrating the deletion of one chromosomal region 22q11 segment. (medscape.com)
Smaller deletions involving the region 10p14-pter have been described in (orpha.net)
A small percentage of affected individuals have shorter deletions in the same region. (medlineplus.gov)

Anatomy3

Diseases26

Chemicals and Drugs3

Analytical, Diagnostic and Therapeutic Techniques and Equipment4

Psychiatry and Psychology5

Phenomena and Processes8

Information Science2

DIGEORGE SYNDROME13

VCFS6

Microdeletion syndrome3

Phenotype7

Children with 22q11.2 deletion1

Shprintzen syndrome2

Congenital1

Hypocalcemia3

Hypoplasia6

Cardiac2

Chromosome region1

Chromosomal deletion3

Diagnosis4

Anomalies1

Immune deficiency1

Abnormalities6

Variants2

22q11.2 microdeletion1

Mutations2

Genes3

Genetic4

Autosomal1

Clinical1

Phenotypic variability1

Locus2

Facial1

Incidence1

Ventricular septal1

Phenotypes2

Severe form1

Cleft palate1

Preliminary1

Occurs3

Schizophrenia3

Etiology1

Symptoms3

Patients4

Strongest1

Features4

Developmental1

Sequence2

Region3