MCID: CRD002
MIFTS: 48

Cri-Du-Chat Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Cri-Du-Chat Syndrome

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Sources:
11Disease Ontology, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Cri-Du-Chat Syndrome:

Name: Cri-Du-Chat Syndrome 51 11 25 38 13 67
Monosomy 5p 47 25 53 67
5p Deletion Syndrome 11 47 25
Cri Du Chat Syndrome 47 24 53
Cat Cry Syndrome 47 24 25
5p- Syndrome 47 24 25
Chromosome 5p Deletion Syndrome 11 47
Chromosome 5p- Syndrome 47 25
Partial Monosomy 5p 47 26
 
Deletion 5p 47 53
Chromosome 5 Short Arm Deletion Syndrome 11
5p Partial Monosomy Syndrome 11
Chromosome 5p Deletion 47
5p Minus Syndrome 47
Cri Du Chat 70
5p Deletion 47
5p Monosomy 47

Characteristics:

Orphanet epidemiological data:

53
monosomy 5p:
Inheritance: Not applicable; Age of onset: Neonatal

HPO:

63
cri-du-chat syndrome:
Inheritance: sporadic

Classifications:



External Ids:

OMIM51 123450
Disease Ontology11 DOID:12580
ICD1029 Q93.4
ICD9CM31 758.31
MeSH38 D003410
SNOMED-CT61 70173007
NCIt44 C34518
Orphanet53 ORPHA281
MESH via Orphanet39 D003410, C538482
UMLS via Orphanet68 C0010314, C2931860
ICD10 via Orphanet30 Q93.4

Summaries for Cri-Du-Chat Syndrome

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NIH Rare Diseases:47 Chromosome 5p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 5p deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 5p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 5. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders. Last updated: 4/11/2016

MalaCards based summary: Cri-Du-Chat Syndrome, also known as monosomy 5p, is related to epilepsy and peters anomaly, and has symptoms including microcephaly, epicanthus and round face. An important gene associated with Cri-Du-Chat Syndrome is CTNND2 (Catenin Delta 2). Affiliated tissues include testes, heart and eye.

Genetics Home Reference:25 Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.

OMIM:51 Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with... (123450) more...

Wikipedia:70 Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− (said minus) syndrome or... more...

Related Diseases for Cri-Du-Chat Syndrome

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Graphical network of the top 20 diseases related to Cri-Du-Chat Syndrome:



Diseases related to cri-du-chat syndrome

Symptoms for Cri-Du-Chat Syndrome

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Clinical features from OMIM:

123450

Human phenotypes related to Cri-Du-Chat Syndrome:

 63 53 (show all 89)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
2 epicanthus63 53 hallmark (90%) Very frequent (99-80%) HP:0000286
3 round face63 53 hallmark (90%) Very frequent (99-80%) HP:0000311
4 micrognathia63 hallmark (90%) HP:0000347
5 low-set, posteriorly rotated ears63 53 hallmark (90%) Very frequent (99-80%) HP:0000368
6 wide nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0000431
7 muscular hypotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001252
8 abnormality of the voice63 53 hallmark (90%) Very frequent (99-80%) HP:0001608
9 abnormality of chromosome segregation63 hallmark (90%) HP:0002916
10 cognitive impairment63 hallmark (90%) HP:0100543
11 abnormality of the palate63 typical (50%) HP:0000174
12 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
13 short neck63 53 typical (50%) Frequent (79-30%) HP:0000470
14 downslanted palpebral fissures63 53 typical (50%) Frequent (79-30%) HP:0000494
15 intrauterine growth retardation63 53 typical (50%) Frequent (79-30%) HP:0001511
16 scoliosis63 53 typical (50%) Frequent (79-30%) HP:0002650
17 short palm63 typical (50%) HP:0004279
18 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
19 preauricular skin tag63 53 occasional (7.5%) Occasional (29-5%) HP:0000384
20 joint hypermobility63 occasional (7.5%) HP:0001382
21 recurrent fractures63 53 occasional (7.5%) Occasional (29-5%) HP:0002757
22 hernia of the abdominal wall63 occasional (7.5%) HP:0004299
23 abnormality of bone mineral density63 53 occasional (7.5%) Occasional (29-5%) HP:0004348
24 finger syndactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0006101
25 intellectual disability63 HP:0001249
26 high pitched voice63 53 Very frequent (99-80%) HP:0001620
27 inguinal hernia63 53 Occasional (29-5%) HP:0000023
28 cryptorchidism63 HP:0000028
29 hypospadias63 HP:0000047
30 abnormality of the kidney63 HP:0000077
31 thick lower lip vermilion63 HP:0000179
32 bifid uvula63 HP:0000193
33 oral cleft63 HP:0000202
34 high palate63 53 Frequent (79-30%) HP:0000218
35 facial grimacing63 HP:0000273
36 narrow face63 HP:0000275
37 long face63 HP:0000276
38 microretrognathia63 53 Very frequent (99-80%) HP:0000308
39 short philtrum63 HP:0000322
40 facial asymmetry63 HP:0000324
41 prominent supraorbital ridges63 HP:0000336
42 hearing impairment63 HP:0000365
43 low-set ears63 HP:0000369
44 abnormality of the pinna63 HP:0000377
45 stenosis of the external auditory canal63 HP:0000402
46 strabismus63 HP:0000486
47 cataract63 HP:0000518
48 myopia63 HP:0000545
49 optic atrophy63 HP:0000648
50 autism63 HP:0000717
51 aggressive behavior63 HP:0000718
52 stereotypy63 HP:0000733
53 short attention span63 HP:0000736
54 anxiety63 HP:0000739
55 self-mutilation63 HP:0000742
56 delayed speech and language development63 HP:0000750
57 hyperactivity63 HP:0000752
58 single transverse palmar crease63 HP:0000954
59 high axial triradius63 HP:0001042
60 syndactyly63 HP:0001159
61 hypertonia63 HP:0001276
62 neonatal hypotonia63 HP:0001319
63 growth delay63 HP:0001510
64 small for gestational age63 HP:0001518
65 diastasis recti63 HP:0001540
66 pes planus63 HP:0001763
67 metatarsus adductus63 HP:0001840
68 gastroesophageal reflux63 HP:0002020
69 premature graying of hair63 HP:0002216
70 difficulty walking63 HP:0002355
71 downturned corners of mouth63 HP:0002714
72 functional respiratory abnormality63 HP:0002795
73 recurrent infections in infancy and early childhood63 HP:0005437
74 feeding difficulties in infancy63 HP:0008872
75 anterior open-bite malocclusion63 HP:0009102
76 short metacarpal63 HP:0010049
77 echolalia63 HP:0010529
78 short metatarsal63 HP:0010743
79 hyperacusis63 HP:0010780
80 oppositional defiant disorder63 HP:0010865
81 abnormality of cardiovascular system morphology63 HP:0030680
82 conspicuously happy disposition63 HP:0100024
83 overfriendliness63 HP:0100025
84 cat cry63 53 Very frequent (99-80%) HP:0200046
85 malformation of the heart and great vessels53 Occasional (29-5%)
86 joint hyperflexibility53 Occasional (29-5%)
87 intellectual disability, severe53 Very frequent (99-80%)
88 severe global developmental delay53 Very frequent (99-80%)
89 small hand53 Frequent (79-30%)

UMLS symptoms related to Cri-Du-Chat Syndrome:


cri du chat

Drugs & Therapeutics for Cri-Du-Chat Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1SNP-based Microdeletion and Aneuploidy RegisTry (SMART)RecruitingNCT02381457
2Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNARecruitingNCT02109770
3Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal BloodRecruitingNCT01852708

Search NIH Clinical Center for Cri-Du-Chat Syndrome


Cochrane evidence based reviews: cri-du-chat syndrome

Genetic Tests for Cri-Du-Chat Syndrome

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Genetic tests related to Cri-Du-Chat Syndrome:

id Genetic test Affiliating Genes
1 5p Partial Monosomy Syndrome26
2 Cri Du Chat Syndrome24

Anatomical Context for Cri-Du-Chat Syndrome

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MalaCards organs/tissues related to Cri-Du-Chat Syndrome:

35
Testes, Heart, Eye, Bone, Skin, Kidney, Brain

Animal Models for Cri-Du-Chat Syndrome or affiliated genes

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Publications for Cri-Du-Chat Syndrome

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Articles related to Cri-Du-Chat Syndrome:

(show top 50)    (show all 180)
idTitleAuthorsYear
1
Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients. (27144168)
2016
2
Temporal and spatial gait parameters in children with Cri du Chat Syndrome under single and dual task conditions. (27569649)
2016
3
Eating epilepsy characterised by late-onset epileptic spasms in a case of Cri du chat syndrome. (26552563)
2015
4
Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p. (25066065)
2014
5
Anesthetic experience of a patient with cri du chat syndrome. (24363858)
2013
6
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome. (22510527)
2012
7
Prenatal diagnosis of Cri du Chat syndrome: four cases report. (22746208)
2012
8
Association between fatigue and autistic symptoms in children with cri du chat syndrome. (21740256)
2011
9
A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome. (21205041)
2011
10
Anesthetic management of a patient with Cri Du Chat syndrome. Case report. (21146059)
2010
11
Sign communication in Cri du chat syndrome. (20400089)
2010
12
Craniofacial characteristics in cri-du-chat syndrome. (21112524)
2010
13
Consonants in Cri du chat syndrome: a case study. (17949737)
2008
14
Functional analysis and treatment of chronic hair pulling in a child with cri du chat syndrome: effects on co-occurring thumb sucking. (22477674)
2008
15
Correlation between ultrasound and pathological examination in a prenatal diagnosis of Cri du Chat syndrome associated with partial trisomy 17q. (18444226)
2008
16
Past tense morphology in Cri du chat syndrome: experimental evidence. (18415740)
2008
17
Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome. (17506096)
2007
18
A new genomic mechanism leading to cri-du-chat syndrome. (17103439)
2006
19
Cri du Chat syndrome: a case report. (16463600)
2005
20
A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome. (11869383)
2002
21
Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome. (10482877)
1999
22
Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition. (9916835)
1999
23
No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome. (10440832)
1999
24
Families of children with 5p- (cri du chat) syndrome: familial stress and sibling reactions. (9393890)
1997
25
Developmental and behavioural characteristics of cri du chat syndrome. (8957962)
1996
26
The neuropsychological profile of cri du chat syndrome without significant learning disability. (8870615)
1996
27
Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. (8004090)
1994
28
Phenotypic and phoniatric findings in mosaic cri du chat syndrome. (1877615)
1991
29
Two cases of cri-du-chat syndrome with mild phenotypic effect but with different size of 5p deletion. (2206616)
1990
30
5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly. (2311266)
1990
31
Lensectomy in an infant with cri du chat syndrome and cataracts. (3165127)
1988
32
Anesthetic considerations in cri du chat syndrome: a report of three cases. (4025870)
1985
33
Clinical heterogeneity in 80 home-reared children with cri du chat syndrome. (6834187)
1983
34
An avoidable recurrence of cri du chat syndrome in the next generation. (6416600)
1983
35
Psychomotor development in 65 home-reared children with cri-du-chat syndrome. (7411302)
1980
36
Ocular findings in a newborn with cri du chat syndrome. (418724)
1978
37
The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. (365706)
1978
38
Dermatoglyphics in Cri du Chat syndrome. (837572)
1977
39
The larynx in the cri du chat syndrome. (925494)
1977
40
Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome. (1002156)
1976
41
Transmission of the cri-du-chat syndrome from a maternal balanced translocation carrier, t(5p-;11q+). (4768112)
1973
42
Ocular abnormalities in the cri du chat syndrome. (4624375)
1972
43
Cri-du-chat syndrome combined with partial C-group trisomy. (5079100)
1972
44
An autoradiographic study of the chromosomes in the cri du chat syndrome. (5291170)
1971
45
A pericentric inversion, 5 p-q+, and additional complex rearrangements in a case of cri-du-chat syndrome. (5097502)
1971
46
Long arm measurements of chromosomes 4 and 5 with special reference to the cri du chat syndrome. (5822325)
1969
47
Screening for minute deletions in patients with suspected cri-du-chat syndrome and apparently normal karyotype. (5365580)
1969
48
Enlarged B-group chromosome (4-5). Association with the cri du chat syndrome. (6019447)
1967
49
Cri-du-chat syndrome in a 10 year old girl with deletion of the short arms of chromosome number 5. Observations on dermatoglyphics, maxillo-mandibular measurements and sound spectrograms. (5585047)
1967
50
Alternative DNA replication patterns associated with long arm length of chromosomes 4 and 5 in the cri du chat syndrome. (5921496)
1966

Variations for Cri-Du-Chat Syndrome

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Copy number variations for Cri-Du-Chat Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11914615118500000Copy numberCRR9Cri-du chat syndrome
21914625118500000Copy numberTERTCri-du chat syndrome
3191724518200000Copy numberCri-du chat syndrome
42024455820000015100000Copy numberSEMA5ACri-du chat syndrome
52024585820000015100000MicrodeletionCri-du chat syndrome

Expression for genes affiliated with Cri-Du-Chat Syndrome

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Search GEO for disease gene expression data for Cri-Du-Chat Syndrome.

Pathways for genes affiliated with Cri-Du-Chat Syndrome

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GO Terms for genes affiliated with Cri-Du-Chat Syndrome

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Cellular components related to Cri-Du-Chat Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axonemeGO:00059309.6DNAH5, SEPT9

Biological processes related to Cri-Du-Chat Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of endothelial cell apoptotic processGO:200035210.2SEMA5A, TERT
2positive regulation of angiogenesisGO:00457669.8SEMA5A, TERT

Sources for Cri-Du-Chat Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet