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International Birth Defects Information Systems
Chromosome 22 related Syndromes

International Birth Defects Information Systems

Chromosome 22 related Syndromes

Topics: | Cat Eye | CATCH22 | CES | CHARGE | DiGeorge | Shprintzen | VCF | Velocardiofacial | 11 / 22 Translocation | 22q11 Deletion S. | Conotruncal Face A. | Hypoplasia of Thymus and Parathyroids S. | Opitz S. | Schmid Fraccaro S. | Takao VCF S. | Third and Fourth Pharyngeal Pouch S. | VCFS |

Related Topics: | Cleft Lip Palate | Micrognathia | Pierre Robin |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | Finnish | French | Spanish | Swedish | Ukrainian |

Visitor Comments [for Professionals mainly]
Alternative titles; symbols
Gene Map Locus: 22q11
Shprintzen et al. (1981) reported on 39 patients with a syndrome characterized by the following frequent features: cleft palate, cardiac anomalies, typical facies, and learning disabilities. Less frequent features included microcephaly, mental retardation, short stature, slender hands and digits, minor auricular anomalies, and inguinal hernia. The Pierre Robin syndrome was present in 4. The heart malformation was most often ventricular septal defect …
Goldberg et al. (1993) reviewed the full spectrum of the velocardiofacial syndrome on the basis of 120 patients. Learning disability, cleft palate, and pharyngeal hypotonia were present in 90% or more of the patients; cardiac anomalies in 82%; slender hands and digits in 63%; medial displacement of internal carotid arteries in 25%; umbilical hernia in 23%; and hypospadias in 10% of males. Shprintzen et al. (1992) pointed out that psychotic illness is also a feature of VCFS in adolescents or adults …
The large clinical overlap between DiGeorge syndrome and velocardiofacial syndrome suggested an etiologic connection. DiGeorge syndrome is associated with microdeletions of chromosome 22q11 and is thought to be caused by reduced dosage of genes within this region, i.e., monosomy …
Nickel et al. (1994) reported 3 patients with meningomyelocele, congenital heart defects and 22q11 … Two of the children had the clinical diagnosis of VCFS; both also had bifid uvula. The third child had DiGeorge sequence.

Visitor Comments [for Professionals mainly]
Alternative titles; symbols
Gene Map Locus: 22q11
... DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart … Most cases result from a deletion of chromosome 22q11.2 … This deletion may present with a variety of phenotypes: Shprintzen syndrome (192430); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations …
DiGeorge syndrome overlaps … Disorder described by the Japanese as "conotruncal anomaly face syndrome" … "68% of Shprintzen syndrome patients … have been recognized to have deletions of 22q11" … The term DiGeorge syndrome be reserved for those with neonatal presentation, particularly with thymic hypoplasia and hypocalcemia, and that the designation VCFS be used for … CATCH22 and … Acronym be taken to represent cardiac abnormality, T cell deficit, clefting, and hypocalcemia.
... DiGeorge syndrome is characterized by neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells. The immune deficit is caused by hypoplasia or aplasia of the thymus gland. A variety of cardiac malformations are seen in particular affecting the outflow tract. These include tetralogy of Fallot, type B interrupted aortic arch, truncus arteriosus, right aortic arch and aberrant right subclavian artery. In infancy, micrognathia may be present. The ears are typically low set and deficient in the vertical diameter with abnormal folding of the pinna. Telecanthus with short palpebral fissures is seen. Both upward and downward slanting eyes have been described. The philtrum is short and the mouth relatively small. In the older child the features overlap Shprintzen syndrome (velocardiofacial syndrome) with a rather bulbous nose and square nasal tip and hypernasal speech associated with submucous or overt palatal clefting. Cases presenting later tend to have a milder spectrum of cardiac defect with ventricular septal defect being common.
Short stature and variable mild to moderate learning difficulties are common. A variety of psychiatric disorders have been described in a small proportion of adult cases of velocardiofacial syndrome. These have included paranoid schizophrenia and major depressive illness. Clinical features seen more rarely include hypothyroidism, cleft lip, and deafness.
Goodship et al. (1995) described monozygotic twin brothers with precisely the same 22q11.2 deletion but somewhat discordant clinical phenotype …
DiGeorge syndrome is usually sporadic and results from de novo 22 deletion …
Other chromosome defects have been identified … There was 1 case of DGS with del10p13 and one with a 18q21.33 deletion … deletion of 4q21.3 - q25 associated with interrupted aortic arch, VSD, ASD, and PDA; T cell deficit and a small thymus at surgery …
The association of the DiGeorge syndrome with at least 2 and possibly more chromosomal locations suggests strongly that several genes are involved in control of migration of neural crest cells and their subsequent fixation and differentiation at different sites …
Calcium supplements and 1,25 - cholecalciferol may be needed to treat hypocalcemia. Thymic transplantation has been employed though this is difficult to assess since children tend to improve with age …
The original description of the syndrome was derived from a published discussion at an immunology meeting (Cooper et al., 1965). DiGeorge (1968) published a formal report 3 years later. The report by Strong (1968) predated this formal report and probably represents the same variable disorder. Kimura (1977) reported velopharyngeal deficiency in a series of patients without cleft palate. The Japanese language report by Kinouchi et al. (1976) and the English reports, by Takao et al. (1980) and Shimizu et al. (1984), delineated the syndrome in the Japanese population. The acronym CATCH22 derives from the phrase Catch 22, which was used by Joseph Heller as the title of his book (Heller, 1962).

22q11 Deletion Syndrome
Donna M. McDonald - McGinn, MS, CGC, et al., GENEClinics, December 16, 2005
Visitor Comments [for Professionals mainly]
[del 22q11, Shprintzen Syndrome, DiGeorge Syndrome, ( DGS ) Velocardiofacial Syndrome ( VCFS )], ( CAFS ), ( CHARGE Association PITZG / BBB)
Individuals with 22q11 deletion syndrome ( del 22q11 ) have a range of findings, including congenital heart disease ( 74% of patients ), particularly conotruncal malformations ( tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus ); palatal abnormalities (69%), particularly velopharyngeal incompetence ( VPI ), submucosal cleft palate, and cleft palate; characteristic facial features ( present in the majority of individuals ); and learning difficulties (70 - 90%). Hypocalcemia and immune deficiency are typical but less common … Del 22q11 is inherited as a deletion syndrome. About 94% of probands have a de novo deletion of 22q11 and 6% have inherited the 22q11 deletion from a parent …
Clinical Diagnosis
… Suspected in patients with a range of findings that may include some combination of the following: congenital heart disease ( particularly conotruncal malformations ), palatal abnormalities [ especially velopharyngeal insufficiency ( VPI ) ], hypocalcemia, immune deficiency, learning difficulties, and, at times, characteristic facial features …
Congenital heart disease was present in 74% of patients …
Cardiac Findings in 222 patients with Del 22q11
Tetralogy of Fallot ( TOF ) 22%, Interrupted aortic arch ( IAA ) 15%, Ventricular septal defect ( VSD ) 13% … Normal 26% …
Sixty-nine percent of patients had a definitive palatal abnormality ( Table 3 ). Of the 27% with confirmed VPI, several patients were initially diagnosed with del 22q11 …
Palatal findings in 181 patients with del 22q11
Velopharyngeal incompetence ( VPI ) 27%, Submucosal cleft palate ( SMCP ) 16%, Overt cleft palate 11%, Bifid uvula 5% … Normal 17% …
Parathyroid function.
Forty-nine percent of 158 patients had confirmed hypocalcemia …
… Hypoplastic alae nasae leading to the appearance of a bulbous nasal tip …
… Hooding of the upper lid ( 41% ), ptosis ( 9% ) …
… 41% were below the 5th percentile in height …
Musculoskeletal system.
Polyarticular juvenile rheumatoid arthritis ( JRA ) occurs in children with del 22q11 at a frequency 150 times that of the general population rate … 19% had vertebral anomalies including butterfly vertebrae, hemivertebrae, and coronal clefts …
… Renal ultrasonography … revealed renal or GU abnormalities in 37% … If the parents of an individual with del 22q11 have normal FISH studies, the recurrence risk is quite small …

Velo - Cardio - Facial Syndrome Educational Foundation, Inc. (USA)
Robert J. Shprintzen, Ph.D., VCFS Educational Foundation
Visitor Comments [Support Groups]
… The Velo - Cardio - Facial Syndrome (VCFS) Educational Foundation … is an international not - for - profit, self - help organization dedicated to providing support and information to individuals who are affected by Velo - Cardio - Facial syndrome, their families, physicians sand other practitioners. The Foundation is independent of - and not affiliated with - any particular institution … You may also contact the Executive Director, Dr. Shprintzen, directly.

VCFS Educational Foundation Specialist Fact Sheet
VCFS Education Foundation Fact Sheet
Visitor Comments [for Professionals mainly]
… Also known as Shprintzen Syndrome, and sometimes presenting as the DiGeorge Sequence, is known to be caused by a deletion of a small segment of the long arm of chromosome 22 …

Visitor Comments [for Professionals mainly]
Gene Map Locus: 22q11.2
… found in a daughter and her mother with DiGeorge syndrome / velocardiofacial syndrome phenotypes …

Visitor Comments [for Professionals mainly]
Gene Map Locus: 10p14-p13

VCFS / DiGeorge Family Support Network of Washington
VCFS/DiGeorge Family Support Network of Washington
Visitor Comments [Support Groups]

Dr. Tony Lipson, Velo Cardio Facial Syndrome Foundation (Qld) Inc., 2006
Visitor Comments [Support Groups]

Trisomy 22 mosaicism syndrome and Ullrich - Turner stigmata.
Wertelecki W et al. Am J Med Genet 1986 Mar; 23(3):739-49
Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich - Turner syndrome including short stature, ptosis, webbed neck, nevi, cubitus valgus, dysplastic nails, malformed great vessels, and abnormal ovaries ... Trisomy 22 mosaicism was found only in fibroblasts ... Both chromosomes 22 were of paternal origin

Alternative titles; symbols
INV DUP ( 22 )( q11 )
Gene Map Locus: 22q11
The variability of clinical features, particularly congenital malformations, is enormous (see Schachenmann et al., 1965, Schinzel et al., 1981, and Schinzel, 1994). Within a single family, a wide spectrum of features can be observed, ranging from marginally affected individuals in whom, unless other members are affected, no chromosome examination would be performed, to those with the full pattern of malformations and lethal outcome ... The characteristic cat eye syndrome ( CES ) is a combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and near-normal mental development. A small, supernumerary chromosome ( smaller than chromosome 21 ) is present, has 2 centromeres, is bisatellited, and represents an inv dup( 22 )( q11 ) ... Growth
Mostly normal
Preauricular malformations, ear reduction
Coloboma, microphthalmia, rarely other malformations
CHD, especially TAPVR and TOF
Anal atresia with fistula rarely malrotation, Meckel diverticulum, biliary atresia
Renal malformations
Genetics :
Additional inv dup(22)(q11) chromosome

Clinical sign of : Cat - eye syndrome
ORPHA net,
Preauricular pits
Preauricular tags
Chromosomal anomalie
Imperforate anus/anal stenosis
Abnormal rib
Dislocated hip
Coloboma of iris
Lower jaw anomalies

Discarded Thymus Tissue Provides Life For Infants With DiGeorge Syndrome
Duke University Medical Center, October 15, 1999
Using thymus tissue that is normally thrown away after pediatric heart surgery, physicians at Duke University Medical Center have created a new T cell immune system for two children who would have otherwise died ...

VCFSEF Quarterly Newsletters
VCFS/DiGeorge Family Support Network of Washington

... G SYNDROME ... OPITZ-FRIAS SYNDROME ... BBB SYNDROME ... variously named the G, Opitz-G, or BBB syndrome, includes hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; and congenital heart defects. ... G syndrome and the BBB syndrome ... are the same entity ...

Signe clinique de : Cat - eye syndrome
Visitor Comments [French]
fistules preauriculaires
appendices preauriculaires
trisomie ou monosomie totale/partielle
imperforation anale/fistule recto-vagin.
iris colobome

22Q11.2 Microdeletion Syndrome
I.B.I.S. Birth Defects, 2005
Visitor Comments [Ukrainian]
Ukrainian Ministry of Health and Kyiv Medical Academy of Post Diploma Education recommendations for specialists in Ukrainian
Definition ... Clinical features ... Diagnosis ... Treatment ... Medical genetic counselling

CATCH Syndrome
I.B.I.S. Birth Defects, 2002
Visitor Comments [Ukrainian]
Fact sheet for specialists in Ukrainian
Definition ... Clinical features and diagnosis ... Prenatal diagnosis ... Etiology ... Differential diagnosis ... Patient examination and treatment ... Prevention ... OMIM number

Cat eye syndrome
I.B.I.S. Birth Defects, September 5, 2003
Visitor Comments [Ukrainian]
A fact sheet for specialists in Ukrainian
Syndrome features ... Anomalies ... Etiology ... Diagnosis ... OMIM number ...

DiGeorge syndrome
I.B.I.S. Birth Defects, 2002
Visitor Comments [Ukrainian]
A fact sheet for specialists in Ukrainian
Synonyms ... Main diagnostic criteria ... Prevalence ... Clinical features ... Associated anomalies ... Differential diagnosis ... Etiology ... Prognosis ... Treatment ... OMIM number ...


Last Updated: 2023/08/02


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