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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Cri-Du-Chat Syndrome:

Name: Cri-Du-Chat Syndrome 52 11 25 39 13 68
Monosomy 5p 48 25 54 68
5p Deletion Syndrome 11 48 25
Cri Du Chat Syndrome 48 24 54
Cat Cry Syndrome 48 24 25
5p- Syndrome 48 24 25
Chromosome 5p Deletion Syndrome 11 48
Chromosome 5p- Syndrome 48 25
Partial Monosomy 5p 48 27
 
Deletion 5p 48 54
Chromosome 5 Short Arm Deletion Syndrome 11
5p Partial Monosomy Syndrome 11
Chromosome 5p Deletion 48
5p Minus Syndrome 48
Cri Du Chat 71
5p Deletion 48
5p Monosomy 48

Characteristics:

Orphanet epidemiological data:

54
monosomy 5p:
Inheritance: Not applicable; Age of onset: Neonatal

HPO:

64
cri-du-chat syndrome:
Inheritance: sporadic

Classifications:



External Ids:

OMIM52 123450
Disease Ontology11 DOID:12580
ICD1030 Q93.4
ICD9CM32 758.31
MeSH39 D003410
SNOMED-CT62 70173007
NCIt45 C34518
Orphanet54 ORPHA281
MESH via Orphanet40 D003410, C538482
UMLS via Orphanet69 C0010314, C2931860
ICD10 via Orphanet31 Q93.4

Summaries for Cri-Du-Chat Syndrome

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NIH Rare Diseases:48 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:52 Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with... (123450) more...

Wikipedia:71 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 & Phenotypes for Cri-Du-Chat Syndrome

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Clinical features from OMIM:

123450

Human phenotypes related to Cri-Du-Chat Syndrome:

 64 54 (show all 89)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000252
2 epicanthus64 54 hallmark (90%) Very frequent (99-80%) HP:0000286
3 round face64 54 hallmark (90%) Very frequent (99-80%) HP:0000311
4 micrognathia64 hallmark (90%) HP:0000347
5 low-set, posteriorly rotated ears64 54 hallmark (90%) Very frequent (99-80%) HP:0000368
6 wide nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0000431
7 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
8 abnormality of the voice64 54 hallmark (90%) Very frequent (99-80%) HP:0001608
9 abnormality of chromosome segregation64 hallmark (90%) HP:0002916
10 cognitive impairment64 hallmark (90%) HP:0100543
11 abnormality of the palate64 typical (50%) HP:0000174
12 hypertelorism64 54 typical (50%) Frequent (79-30%) HP:0000316
13 short neck64 54 typical (50%) Frequent (79-30%) HP:0000470
14 downslanted palpebral fissures64 54 typical (50%) Frequent (79-30%) HP:0000494
15 intrauterine growth retardation64 54 typical (50%) Frequent (79-30%) HP:0001511
16 scoliosis64 54 typical (50%) Frequent (79-30%) HP:0002650
17 short palm64 typical (50%) HP:0004279
18 short stature64 54 typical (50%) Frequent (79-30%) HP:0004322
19 preauricular skin tag64 54 occasional (7.5%) Occasional (29-5%) HP:0000384
20 joint hypermobility64 occasional (7.5%) HP:0001382
21 recurrent fractures64 54 occasional (7.5%) Occasional (29-5%) HP:0002757
22 hernia of the abdominal wall64 occasional (7.5%) HP:0004299
23 abnormality of bone mineral density64 54 occasional (7.5%) Occasional (29-5%) HP:0004348
24 finger syndactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0006101
25 intellectual disability64 HP:0001249
26 high pitched voice64 54 Very frequent (99-80%) HP:0001620
27 inguinal hernia64 54 Occasional (29-5%) HP:0000023
28 cryptorchidism64 HP:0000028
29 hypospadias64 HP:0000047
30 abnormality of the kidney64 HP:0000077
31 thick lower lip vermilion64 HP:0000179
32 bifid uvula64 HP:0000193
33 oral cleft64 HP:0000202
34 high palate64 54 Frequent (79-30%) HP:0000218
35 facial grimacing64 HP:0000273
36 narrow face64 HP:0000275
37 long face64 HP:0000276
38 microretrognathia64 54 Very frequent (99-80%) HP:0000308
39 short philtrum64 HP:0000322
40 facial asymmetry64 HP:0000324
41 prominent supraorbital ridges64 HP:0000336
42 hearing impairment64 HP:0000365
43 low-set ears64 HP:0000369
44 abnormality of the pinna64 HP:0000377
45 stenosis of the external auditory canal64 HP:0000402
46 strabismus64 HP:0000486
47 cataract64 HP:0000518
48 myopia64 HP:0000545
49 optic atrophy64 HP:0000648
50 autism64 HP:0000717
51 aggressive behavior64 HP:0000718
52 stereotypy64 HP:0000733
53 short attention span64 HP:0000736
54 anxiety64 HP:0000739
55 self-mutilation64 HP:0000742
56 delayed speech and language development64 HP:0000750
57 hyperactivity64 HP:0000752
58 single transverse palmar crease64 HP:0000954
59 high axial triradius64 HP:0001042
60 syndactyly64 HP:0001159
61 hypertonia64 HP:0001276
62 neonatal hypotonia64 HP:0001319
63 growth delay64 HP:0001510
64 small for gestational age64 HP:0001518
65 diastasis recti64 HP:0001540
66 pes planus64 HP:0001763
67 metatarsus adductus64 HP:0001840
68 gastroesophageal reflux64 HP:0002020
69 premature graying of hair64 HP:0002216
70 difficulty walking64 HP:0002355
71 downturned corners of mouth64 HP:0002714
72 functional respiratory abnormality64 HP:0002795
73 recurrent infections in infancy and early childhood64 HP:0005437
74 feeding difficulties in infancy64 HP:0008872
75 anterior open-bite malocclusion64 HP:0009102
76 short metacarpal64 HP:0010049
77 echolalia64 HP:0010529
78 short metatarsal64 HP:0010743
79 hyperacusis64 HP:0010780
80 oppositional defiant disorder64 HP:0010865
81 abnormality of cardiovascular system morphology64 HP:0030680
82 conspicuously happy disposition64 HP:0100024
83 overfriendliness64 HP:0100025
84 cat cry64 54 Very frequent (99-80%) HP:0200046
85 malformation of the heart and great vessels54 Occasional (29-5%)
86 joint hyperflexibility54 Occasional (29-5%)
87 intellectual disability, severe54 Very frequent (99-80%)
88 severe global developmental delay54 Very frequent (99-80%)
89 small hand54 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 Syndrome27
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:

36
Testes, Heart, Eye, Bone, Skin, Kidney, Brain

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
A Newly Recognized Association of Hirschsprung Disease With Cri-du-chat Syndrome. (28050027)
2017
2
Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients. (27144168)
2016
3
Temporal and spatial gait parameters in children with Cri du Chat Syndrome under single and dual task conditions. (27569649)
2016
4
Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods. (28004033)
2016
5
Protein-energy malnutrition is frequent and precocious in children with cri du chat syndrome. (26872355)
2016
6
Eating epilepsy characterised by late-onset epileptic spasms in a case of Cri du chat syndrome. (26552563)
2015
7
Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B. (25756154)
2015
8
A systematic review of the oral and craniofacial manifestations of cri du chat syndrome. (26457586)
2015
9
Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients. (25820652)
2015
10
Electroclinical and cytogenetic features of epilepsy in cri-du-chat syndrome. (26576006)
2015
11
Peters anomaly in cri-du-chat syndrome. (26059676)
2015
12
The association between Cri du chat syndrome and dental anomalies. (25514263)
2015
13
Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p. (25066065)
2014
14
Cri-du-chat syndrome. (25488457)
2014
15
Cri du Chat Syndrome:A case report from Ghana. (25236835)
2014
16
When Cri du chat syndrome meets Edwards syndrome. (25385231)
2014
17
A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome. (24556499)
2014
18
A clue in the diagnosis of Cri-du-chat syndrome: Pontine hypoplasia. (25024576)
2014
19
Consonant production and intelligibility in cri du chat syndrome. (24689530)
2014
20
The association between cri du chat syndrome and dental anomalies. (25905618)
2014
21
Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2. (24677774)
2014
22
Anesthetic experience of a patient with cri du chat syndrome. (24363858)
2013
23
Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange, and Cri du Chat syndromes. (23937369)
2013
24
Determination of periodontopathogens in patients with Cri du chat syndrome. (24121919)
2013
25
Congenital vertical talus in Cri du Chat Syndrome: a case report. (23849392)
2013
26
Brain stem hypoplasia associated with Cri-du-Chat syndrome. (24265573)
2013
27
A de novo Chromosomal Abnormality in Cri du Chat Syndrome. (23900752)
2013
28
Narrative discourse and sociocognitive abilities of a child with Cri-du-Chat syndrome. (23534097)
2013
29
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome. (22510527)
2012
30
Prenatal diagnosis of Cri du Chat syndrome: four cases report. (22746208)
2012
31
Inflectional morphology in cri du chat syndrome--a case study. (21787138)
2012
32
Cri du chat syndrome: a series of five cases. (23455788)
2012
33
Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndrome. (23320207)
2012
34
Exploration of differences in types of sleep disturbance and severity of sleep problems between individuals with Cri du Chat syndrome, Down's syndrome, and Jacobsen syndrome: a case control study. (22699250)
2012
35
Obstacles to communication in children with cri du chat syndrome. (22921333)
2012
36
Assessment of orofacial characteristics and oral pathology associated with cri-du-chat syndrome. (22035137)
2012
37
Association between fatigue and autistic symptoms in children with cri du chat syndrome. (21740256)
2011
38
A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome. (21205041)
2011
39
Cri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation. (21601848)
2011
40
A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome. (21271672)
2011
41
Anesthetic management of a patient with Cri Du Chat syndrome. Case report. (21146059)
2010
42
Sign communication in Cri du chat syndrome. (20400089)
2010
43
Craniofacial characteristics in cri-du-chat syndrome. (21112524)
2010
44
Cri du chat syndrome: a critical review. (20038906)
2010
45
Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation. (21045963)
2010
46
Educational Priorities for Children with Cri-Du-Chat Syndrome. (20157360)
2010
47
Large distal 5p deletion with hemifacial microsomia and absence of cri-du-chat syndrome. (19923986)
2010
48
Prenatal diagnosis of cri-du-chat syndrome: importance of ultrasonographical markers. (19495505)
2009
49
Prenatal diagnosis of Cri-du chat syndrome following high maternal serum human chorionic gonodotrophin and choroid plexus cysts. (19206124)
2009
50
Grammatical constructions in Cri du chat syndrome--findings from a case study. (20001303)
2009

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:200035210.3SEMA5A, TERT
2positive regulation of angiogenesisGO:00457669.8SEMA5A, TERT

Sources for Cri-Du-Chat Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet