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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 |

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VELOCARDIOFACIAL SYNDROME
Victor A. McKusick, OMIM, Johns Hopkins University, February 28, 2008
Visitor Comments [for Professionals mainly]
Alternative titles; symbols
VCF SYNDROME
SHPRINTZEN VCF SYNDROME
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.

DIGEORGE SYNDROME
Victor A. McKusick, OMIM, Johns Hopkins University, April 03, 2008
Visitor Comments [for Professionals mainly]
Alternative titles; symbols
HYPOPLASIA OF THYMUS AND PARATHYROIDS
THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME
SHPRINTZEN VCF SYNDROME
TAKAO VCF SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME
CATCH22, INCLUDED
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 …
CLINICAL MANAGEMENT
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 …
HISTORY
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 …
Craniofacial
… Hypoplastic alae nasae leading to the appearance of a bulbous nasal tip …
Eyes
… Hooding of the upper lid ( 41% ), ptosis ( 9% ) …
Growth
… 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 …
Kidneys
… 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.

Opitz Syndrome
Opitz Family Network (OFN), April 18, 2007
Visitor Comments [Support Groups]
... Opitz Family Network provides families of children with Opitz Syndrome support and encouragement through referrals newsletters and easy to read articles. Their goal is to communicate and share successes and ideas about feeding, surgeries, oral motor and speech therapies, and all the other individual concerns parents have for their special children. ...

Velocardiofacial Syndrome ( VCFS ) (USA)
NIDCD Health Information, August 24, 2007
Visitor Comments [Support Groups]
Velocardiofacial syndrome ( VCFS ) is a disorder that has been associated with over thirty different features. (A disease or disorder that has more than one identifying feature or symptom is a syndrome.) The name velocardiofacial syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart and "facies" having to do with the face. Not all of these identifying features are found in each child who is born with VCFS. The most common features are cleft palate (opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems and speech and feeding problems. Although VCFS is the most common syndrome associated with a cleft palate, it was not recognized until 1978, at which time Dr. Robert J. Shprintzen of the Center for Craniofacial Disorders at the Montefiore Medical Center in Bronx, New York …

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 …

DIGEORGE CRITICAL REGION GENE
Victor A. McKusick, OMIM, Johns Hopkins University, October 22, 2004
Visitor Comments [for Professionals mainly]
Gene Map Locus: 22q11.2
… found in a daughter and her mother with DiGeorge syndrome / velocardiofacial syndrome phenotypes …

DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME SPECTRUM OF MALFORMATION 2
Victor A. McKusick, OMIM, Johns Hopkins University, March 17, 2004
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]

VELO - CARDIO - FACIAL SYNDROME
Dr. Tony Lipson, Velo Cardio Facial Syndrome Foundation (Qld) Inc., 2006
Visitor Comments [Support Groups]
PARENT & FAMILY INFORMATION BOOKLET

C22C Chromosome 22 Central
Chromosome 22 Central Inc., May 2008
Visitor Comments [Support Groups]

COMPLETE TRISOMY 22
Chromosome 22 Central Inc., May 2008
Complete trisomy 22 happens when an extra (third) copy of chromosome 22 is present in every cell of the body ...
CLINICAL FEATURES MAY INCLUDE
microcephaly
abnormal ears
webbed neck
cadiac abnormalities
long fingers
kidney problems (missing, extra, or underdeveloped kidneys)
growth retardation
cleft palate / lip
mental delay
flat nasal bridge
excess neck skin
hypospadias
anal stenosis
clinodactyly of fifth fingers
abnormal finger / toe nails
cyanosis
preauricular pits/tags
preauricular sinus
imperforate anus / rectal abnormalities
rocker bottom feet
finger like thumbs
epicanthal folds
vasculalr malformations
gastrointestinal malformations
seizures
hypotonia
this is not a complete list, other findings may be present

MOSAIC TRISOMY 22
Chromosome 22 Central Inc., May 2008
CLINICAL FEATURES MAY INCLUDE
Microcephaly
Abnormal ears
Webbed neck
Cadiac abnormalities
Long fingers
Kidney problems (missing, extra, or underdeveloped kidneys)
Growth retardation
Shortened limbs
Mental delay
Hemidystrophy (abnormal development of each side of the body
Drooping eyelids
Elbow malformations
Abnormal or / missing finger / toe nails
Absent ovaries/fallopian tubes
Undeveloped testes or ovaries
This is not a complete list, other abnormalities can be present

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

22q11 DELETION SYNDROME
Chromosome 22 Central Inc., May 2008
VELO-CARDIO-FACIAL SYNDROME
SHPRINTZEN SYNDROME
DiGEORGE SYNDROME
CATCH22
CONOTRUNCAL FACE ANOMALY (Cayler - Cardio - Facial Syndrome, CHARGE Association, OPITZ G / BBB)
22q11- Conference Information links

#115470 CAT EYE SYNDROME; CES
Victor A. McKusick, OMIM, Johns Hopkins University, April 13, 2006
Alternative titles; symbols
SCHMID-FRACCARO SYNDROME
CHROMOSOME 22 PARTIAL TETRASOMY
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

cat eye syndrome ( CES )
Stanley Jablonski, December 12, 2006
Schmid-Fraccaro syndrome
Coloboma - anal atresia syndrome
Ocular coloboma-imperforate anus syndrome
from United States National Library of Medicine
Ears: Preauricular tags or fistulae, prominent anthelices, hypoplastic lobes
Anomalous pulmonary venous return tetralogy of Fallot ... Absence of the inferior vena cava ... Eisenmenger complex ...
Kidney hypoplasia or aplasia ...
Mild conductive deafness ... "cat eye syndrome" should be restricted to conditions associated with trisomy or tetrasomy of chromosome 22pter-22q11 ...

CAT EYE SYNDROME
Chromosome 22 Central Inc., May 2007
Can be referred to as CES, Partial Trisomy ( 22pter - 22q11 ), Partial Tetrasomy ( 22pter - 22q11 ) or Inverted Duplication ( 22qter - 22q11 ) or Schmid - Fraccaro Syndrome
Cat Eye Syndrome is a very rare malformation involving Chromosome 22. The short arm (p) and a small section of the long arm (q) are present three (trisomic) or four times (tetrasomic) instead of the usual two times. The additional chromosome 22 usually arises spontaneously (de novo), though it has been reported to have been passed down in families, and some reports show the parents as mosaic for the marker chromosome but who show no phenotypic (outer) symptoms of the syndrome ... 22q11.2 is a very unstable region of chromosome 22 ...

Clinical sign of : Cat - eye syndrome
ORPHA net,
Preauricular pits
Preauricular tags
Chromosomal anomalie
Imperforate anus/anal stenosis
Hypotonia
Abnormal rib
Hypertelorism
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 ...

Medical Needs
Children's Hospital of Philadelphia
What are the medical needs of children with the 22q11.2 deletion?
... Children with a 22q11.2 deletion may have problems in many different body systems, for example, heart, palate and learning style, it makes sense that they should have a comprehensive evaluation of all areas which could be affected ...

VCFSEF Quarterly Newsletters
VCFS/DiGeorge Family Support Network of Washington

The History of the 22q11.2 Deletion
Donna M. et al.
What is the 22q11.2 deletion?
History is quite interesting and worth reviewing ... A syndrome is really a collection of findings ...
People with a 22q11.2 deletion have a very small piece of chromosome 22 missing ... Dr. Emanuel's group at the Children's Hospital of Philadelphia worked very hard to establish the fact that 25% of patients with DiGeorge syndrome had a visible deletion of material on chromosome 22 ...
Dr. Shprintzen's reports of patients with velocardiofacial syndrome ( VCFS for short ) ...
In 1990, C.A. Stevens, M.D., from Utah, reported a patient with DiGeorge syndrome whose father had a cleft palate, problems fighting infection, and facial features consistent with VCFS. He proposed that all previously reported patients with a parent and child affected with DiGeorge syndrome were examples of VCFS ...
Since Dr. Driscoll's discovery that DiGeorge syndrome and VCFS are in fact the same diagnosis, other "syndromes" have been added to the list of diagnoses which have the 22q11.2 deletion ... These presently include CTAF, as described by the Japanese, and one type of Opitz G/BBB syndrome. Opitz G/BBB syndrome was first described by John Opitz, M.D. ... We at the Children's Hospital of Philadelphia, therefore, refer to all patients with a 22q11.2 deletion by their cytogenetic name, patients with a 22q11.2 deletion ...

HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS
Victor A. McKusick, Ada Hamosh, OMIM, Johns Hopkins University, March 17, 2004
... 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 ...

CATCH22 - sairaudet
saunalahti.fi, January 22, 2005
Visitor Comments [Finnish]
CATCH22-sairauksilla tarkoitetaan oireyhtymää, jossa yhdistyvät sydävika, poikkeavat kasvonpiirteet, kateenkorvan toimintahäiriö, kitalakihalkio sekä veren kalkkipitoisuuden mataluus ...

DiGeorge, syndrome : sites francophones
Rouen University Hospital, April 16, 2007
Visitor Comments [French]
DiGeorge syndrome appartient à l'arborescence ... maladies immunologiques de Medline ...
Génération 22 Association des personnes atteintes d'une micro délétion 22q11 (syndrome DiGeorge) et leur famille ...

LA MICRODELETION 22q11
Service de Cardiolgie Pediatrique, Cliniques Universitaires Saint-Luc
Visitor Comments [French]
Le micro délétion 22q11, souvent appelée DiGeorge ou Syndrome de Shprintzen ou encore syndrome vélo-cardio-facial (VCF), est une affection dont vous n’avez sans doute pas entendu parler ...

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

Deleción 22q11 (del22q11): una nueva causa reconocida de trastornos de conducta y enfermedades psiquiátricas
Sociedad Argentina de Pediatria
Visitor Comments [Spanish]
La deleción cromosómica 22q11 es el síndrome por microdeleción más común, con una incidencia de 1 en 2000 a 4000. Causa un espectro de síndromes clínicos bien descriptos como el síndrome de Di George, síndrome velocardiofacial y otros menos característicos. Al no tener un único fenotipo fácilmente reconocible, esta importante causa de enfermedades puede ser pasada por alto. En este trabajo se describen las alteraciones psiquiátricas y del comportamiento, presentes hasta en el 60% de los individuos afectados … Estudios recientes sugieren que hasta un 60% de estos individuos podrían presentar también trastornos de conducta y enfermedades psiquiátricas en forma asociada …

DiGeorge Syndrom / Velo - Cardio - Faziales (VCF) Syndrom
Institut für Humangenetik, Universität Göttingen, March 16, 2006
Visitor Comments [Swedish]
Infoblatt DiGeorge
Die Symptome des DiGeorge Syndroms umfassen konotrunkale Herzfehler, eine typische Fazies (Hypertelorismus, schmaler Mund, Ohranomalien), Thymushypo-/aplasie, Hypocalcaemie. Nur wenige Patienten zeigen alle Merkmsle. Es besteht eine Überlappung der Phänotypen von Digeorge - Syndrom und Veloc - Cardio - Fazialem Syndrom (Shprintzen), welches durch eine Spaltbildung des Gesichts in Kombination mit einem Herzfehler vom o.g. Typ charakterisiert ist.40 weitere Symptome sind beschrieben. Beiden Syndromen liegt sehr häufig eine Deletion auf einem Chromosom 22 (22q11.2) zugrunde …

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 ...

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Last Updated: 2009/3/09

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