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:
50OMIM, 11Disease Ontology, 69Wikipedia, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 38MESH via Orphanet, 67UMLS via Orphanet, 29ICD10 via Orphanet, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cri-Du-Chat Syndrome:

Name: Cri-Du-Chat Syndrome 50 11 24 13 37 66
Monosomy 5p 46 24 52 66
5p Deletion Syndrome 11 46 24
Cri Du Chat Syndrome 46 23 52
Cat Cry Syndrome 46 23 24
5p- Syndrome 46 23 24
Chromosome 5p Deletion Syndrome 11 46
Chromosome 5p- Syndrome 46 24
Partial Monosomy 5p 46 25
 
Deletion 5p 46 52
Chromosome 5 Short Arm Deletion Syndrome 11
5p Partial Monosomy Syndrome 11
Chromosome 5p Deletion 46
5p Minus Syndrome 46
5p Deletion 46
5p Monosomy 46
Cri Du Chat 69

Characteristics:

Orphanet epidemiological data:

52
monosomy 5p:
Inheritance: Not applicable; Age of onset: Neonatal

HPO:

62
cri-du-chat syndrome:
Inheritance: sporadic


Classifications:



External Ids:

OMIM50 123450
Disease Ontology11 DOID:12580
ICD1028 Q93.4
ICD9CM30 758.31
MeSH37 D003410
SNOMED-CT60 70173007
NCIt43 C34518
Orphanet52 ORPHA281
MESH via Orphanet38 D003410, C538482
UMLS via Orphanet67 C0010314, C2931860
ICD10 via Orphanet29 Q93.4

Summaries for Cri-Du-Chat Syndrome

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Genetics Home Reference:24 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.

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 heart, eye and testes.

NIH Rare Diseases:46 Cri du chat syndrome, also known as 5p- (5p minus) syndrome or cat cry syndrome, is a genetic condition that is caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5. 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, low birth weight, weak muscle tone in infancy, and distinctive facial features. while cri du chat syndrome is a genetic condition, most cases are not inherited. last updated: 2/22/2015

OMIM:50 Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with... (123450) more...

Wikipedia:69 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

Symptoms:

 52 (show all 27)
  • inguinal hernia
  • high palate
  • microcephaly
  • epicanthus
  • microretrognathia
  • round face
  • hypertelorism
  • low-set, posteriorly rotated ears
  • preauricular skin tag
  • wide nasal bridge
  • short neck
  • downslanted palpebral fissures
  • muscular hypotonia
  • intrauterine growth retardation
  • abnormality of the voice
  • high pitched voice
  • malformation of the heart and great vessels
  • scoliosis
  • recurrent fractures
  • short stature
  • abnormality of bone mineral density
  • joint hyperflexibility
  • finger syndactyly
  • intellectual disability, severe
  • severe global developmental delay
  • cat cry
  • small hand

HPO human phenotypes related to Cri-Du-Chat Syndrome:

(show all 93)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 epicanthus hallmark (90%) HP:0000286
3 round face hallmark (90%) HP:0000311
4 micrognathia hallmark (90%) HP:0000347
5 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
6 wide nasal bridge hallmark (90%) HP:0000431
7 muscular hypotonia hallmark (90%) HP:0001252
8 abnormality of the voice hallmark (90%) HP:0001608
9 abnormality of chromosome segregation hallmark (90%) HP:0002916
10 cognitive impairment hallmark (90%) HP:0100543
11 abnormality of the palate typical (50%) HP:0000174
12 hypertelorism typical (50%) HP:0000316
13 short neck typical (50%) HP:0000470
14 downslanted palpebral fissures typical (50%) HP:0000494
15 intrauterine growth retardation typical (50%) HP:0001511
16 scoliosis typical (50%) HP:0002650
17 short palm typical (50%) HP:0004279
18 short stature typical (50%) HP:0004322
19 preauricular skin tag occasional (7.5%) HP:0000384
20 joint hypermobility occasional (7.5%) HP:0001382
21 recurrent fractures occasional (7.5%) HP:0002757
22 hernia of the abdominal wall occasional (7.5%) HP:0004299
23 abnormality of bone mineral density occasional (7.5%) HP:0004348
24 finger syndactyly occasional (7.5%) HP:0006101
25 microcephaly HP:0000252
26 intellectual disability HP:0001249
27 high pitched voice HP:0001620
28 inguinal hernia HP:0000023
29 cryptorchidism HP:0000028
30 hypospadias HP:0000047
31 abnormality of the kidney HP:0000077
32 thick lower lip vermilion HP:0000179
33 bifid uvula HP:0000193
34 oral cleft HP:0000202
35 high palate HP:0000218
36 facial grimacing HP:0000273
37 narrow face HP:0000275
38 long face HP:0000276
39 epicanthus HP:0000286
40 microretrognathia HP:0000308
41 round face HP:0000311
42 hypertelorism HP:0000316
43 short philtrum HP:0000322
44 facial asymmetry HP:0000324
45 prominent supraorbital ridges HP:0000336
46 hearing impairment HP:0000365
47 low-set ears HP:0000369
48 abnormality of the pinna HP:0000377
49 preauricular skin tag HP:0000384
50 stenosis of the external auditory canal HP:0000402
51 wide nasal bridge HP:0000431
52 short neck HP:0000470
53 strabismus HP:0000486
54 downslanted palpebral fissures HP:0000494
55 cataract HP:0000518
56 myopia HP:0000545
57 optic atrophy HP:0000648
58 autism HP:0000717
59 aggressive behavior HP:0000718
60 stereotypy HP:0000733
61 short attention span HP:0000736
62 anxiety HP:0000739
63 self-mutilation HP:0000742
64 delayed speech and language development HP:0000750
65 hyperactivity HP:0000752
66 single transverse palmar crease HP:0000954
67 high axial triradius HP:0001042
68 syndactyly HP:0001159
69 hypertonia HP:0001276
70 neonatal hypotonia HP:0001319
71 growth delay HP:0001510
72 small for gestational age HP:0001518
73 diastasis recti HP:0001540
74 pes planus HP:0001763
75 metatarsus adductus HP:0001840
76 gastroesophageal reflux HP:0002020
77 premature graying of hair HP:0002216
78 difficulty walking HP:0002355
79 scoliosis HP:0002650
80 downturned corners of mouth HP:0002714
81 functional respiratory abnormality HP:0002795
82 recurrent infections in infancy and early childhood HP:0005437
83 feeding difficulties in infancy HP:0008872
84 anterior open-bite malocclusion HP:0009102
85 short metacarpal HP:0010049
86 echolalia HP:0010529
87 short metatarsal HP:0010743
88 hyperacusis HP:0010780
89 oppositional defiant disorder HP:0010865
90 abnormality of cardiovascular system morphology HP:0030680
91 conspicuously happy disposition HP:0100024
92 overfriendliness HP:0100025
93 cat cry HP:0200046

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 Syndrome25
2 Cri Du Chat Syndrome23

Anatomical Context for Cri-Du-Chat Syndrome

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

34
Heart, Eye, Testes, Skin, Kidney, Bone, 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 178)
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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet