MCID: CRD002
MIFTS: 49

Cri-Du-Chat Syndrome

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

Aliases & Classifications for Cri-Du-Chat Syndrome

MalaCards integrated aliases for Cri-Du-Chat Syndrome:

Name: Cri-Du-Chat Syndrome 54 12 25 42 14 69
Monosomy 5p 50 25 56 69
5p Deletion Syndrome 12 50 25
Cri Du Chat Syndrome 50 24 56
Cat Cry Syndrome 50 24 25
5p- Syndrome 50 24 25
Chromosome 5p Deletion Syndrome 12 50
5p Partial Monosomy Syndrome 12 29
Chromosome 5p- Syndrome 50 25
Deletion 5p 50 56
Chromosome 5 Short Arm Deletion Syndrome 12
Chromosome 5p Deletion 50
Partial Monosomy 5p 50
5p Minus Syndrome 50
Cri Du Chat 72
5p Deletion 50
5p Monosomy 50

Characteristics:

Orphanet epidemiological data:

56
monosomy 5p
Inheritance: Not applicable; Age of onset: Neonatal;

HPO:

32
cri-du-chat syndrome:
Inheritance sporadic


Classifications:



Summaries for Cri-Du-Chat Syndrome

NIH Rare Diseases : 50 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 primary ciliary dyskinesia, and has symptoms including short stature, scoliosis and intellectual disability, severe. 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 : 54
Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents. (123450)

Wikipedia : 72 Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− syndrome (pronounced \"Five P... more...

Related Diseases for Cri-Du-Chat Syndrome

Diseases related to Cri-Du-Chat Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
id Related Disease Score Top Affiliating Genes
1 epilepsy 10.3
2 primary ciliary dyskinesia 10.1
3 brachydactyly 10.1
4 learning disability 10.1
5 autism spectrum disorder 10.1
6 bronchiectasis 10.1
7 apraxia 10.1
8 arachnoid cysts 10.1
9 scoliosis 10.1
10 childhood apraxia of speech 10.1
11 heart disease 10.1
12 choroid plexus cyst 10.1
13 choroiditis 10.1
14 encephalocele 10.1
15 protein-energy malnutrition 10.1
16 ring chromosome 5 10.1
17 arachnoiditis 10.1
18 ventricular septal defect 10.1
19 monosomy 22 10.1
20 jacobsen syndrome 10.1
21 hemifacial microsomia 10.1
22 cervicitis 10.1
23 laryngitis 10.1
24 cataract 10.1
25 pseudohypoparathyroidism 10.1
26 hydrocephalus 10.1
27 polyhydramnios 9.8
28 hypertonia 9.7
29 dandy-walker syndrome 9.7
30 neuropathy 9.6
31 auditory neuropathy 9.6
32 hypospadias 9.6
33 cerebellar hypoplasia 9.6
34 ermine phenotype 6.1 ASAP2 CDH12 CTNND2 DNAH5 MED10 SEMA5A

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

Clinical features from OMIM:

123450

Human phenotypes related to Cri-Du-Chat Syndrome:

56 32 (show top 50) (show all 82)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
3 intellectual disability, severe 56 32 hallmark (90%) Very frequent (99-80%) HP:0010864
4 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
5 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
6 round face 56 32 hallmark (90%) Very frequent (99-80%) HP:0000311
7 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
8 short neck 56 32 frequent (33%) Frequent (79-30%) HP:0000470
9 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
10 microretrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000308
11 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
12 recurrent fractures 56 32 occasional (7.5%) Occasional (29-5%) HP:0002757
13 finger syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0006101
14 downslanted palpebral fissures 56 32 frequent (33%) Frequent (79-30%) HP:0000494
15 low-set, posteriorly rotated ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000368
16 high palate 56 32 frequent (33%) Frequent (79-30%) HP:0000218
17 joint hyperflexibility 56 32 occasional (7.5%) Occasional (29-5%) HP:0005692
18 epicanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000286
19 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
20 high pitched voice 56 32 hallmark (90%) Very frequent (99-80%) HP:0001620
21 preauricular skin tag 56 32 occasional (7.5%) Occasional (29-5%) HP:0000384
22 small hand 56 32 frequent (33%) Frequent (79-30%) HP:0200055
23 severe global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0011344
24 abnormality of bone mineral density 56 32 occasional (7.5%) Occasional (29-5%) HP:0004348
25 cat cry 56 32 hallmark (90%) Very frequent (99-80%) HP:0200046
26 optic atrophy 32 HP:0000648
27 strabismus 32 HP:0000486
28 myopia 32 HP:0000545
29 hypertonia 32 HP:0001276
30 long face 32 HP:0000276
31 low-set ears 32 HP:0000369
32 hypospadias 32 HP:0000047
33 neonatal hypotonia 32 HP:0001319
34 gastroesophageal reflux 32 HP:0002020
35 cryptorchidism 32 HP:0000028
36 short philtrum 32 HP:0000322
37 intellectual disability 32 HP:0001249
38 bifid uvula 32 HP:0000193
39 cataract 32 HP:0000518
40 hyperactivity 32 HP:0000752
41 autism 32 HP:0000717
42 aggressive behavior 32 HP:0000718
43 self-mutilation 32 HP:0000742
44 syndactyly 32 HP:0001159
45 narrow face 32 HP:0000275
46 pes planus 32 HP:0001763
47 diastasis recti 32 HP:0001540
48 facial asymmetry 32 HP:0000324
49 feeding difficulties in infancy 32 HP:0008872
50 metatarsus adductus 32 HP:0001840

Drugs & Therapeutics for Cri-Du-Chat Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
2 Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA Recruiting NCT02109770
3 Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT01852708

Search NIH Clinical Center for Cri-Du-Chat Syndrome

Cochrane evidence based reviews: cri-du-chat syndrome

Genetic Tests for Cri-Du-Chat Syndrome

Genetic tests related to Cri-Du-Chat Syndrome:

id Genetic test Affiliating Genes
1 5p Partial Monosomy Syndrome 29
2 Cri Du Chat Syndrome 24

Anatomical Context for Cri-Du-Chat Syndrome

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

39
Testes, Heart, Eye, Bone, Kidney, Skin, Brain

Publications for Cri-Du-Chat Syndrome

Articles related to Cri-Du-Chat Syndrome:

(show top 50) (show all 183)
id Title Authors Year
1
Neoplasia in Cri du Chat Syndrome from Italian and German Databases. ( 28523196 )
2017
2
Pontine hypoplasia in cri-du-chat syndrome: alterations in diffusion tensor imaging. ( 28676976 )
2017
3
A Newly Recognized Association of Hirschsprung Disease With Cri-du-chat Syndrome. ( 28050027 )
2017
4
Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients. ( 27144168 )
2016
5
Protein-energy malnutrition is frequent and precocious in children with cri du chat syndrome. ( 26872355 )
2016
6
Temporal and spatial gait parameters in children with Cri du Chat Syndrome under single and dual task conditions. ( 27569649 )
2016
7
Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods. ( 28004033 )
2016
8
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
9
Electroclinical and cytogenetic features of epilepsy in cri-du-chat syndrome. ( 26576006 )
2015
10
Eating epilepsy characterised by late-onset epileptic spasms in a case of Cri du chat syndrome. ( 26552563 )
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
Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients. ( 25820652 )
2015
14
A systematic review of the oral and craniofacial manifestations of cri du chat syndrome. ( 26457586 )
2015
15
Cri-du-chat syndrome. ( 25488457 )
2014
16
When Cri du chat syndrome meets Edwards syndrome. ( 25385231 )
2014
17
Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p. ( 25066065 )
2014
18
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
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
Cri du Chat Syndrome:A case report from Ghana. ( 25236835 )
2014
22
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
23
A clue in the diagnosis of Cri-du-chat syndrome: Pontine hypoplasia. ( 25024576 )
2014
24
A de novo Chromosomal Abnormality in Cri du Chat Syndrome. ( 23900752 )
2013
25
Narrative discourse and sociocognitive abilities of a child with Cri-du-Chat syndrome. ( 23534097 )
2013
26
Brain stem hypoplasia associated with Cri-du-Chat syndrome. ( 24265573 )
2013
27
Determination of periodontopathogens in patients with Cri du chat syndrome. ( 24121919 )
2013
28
Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange, and Cri du Chat syndromes. ( 23937369 )
2013
29
Congenital vertical talus in Cri du Chat Syndrome: a case report. ( 23849392 )
2013
30
[Analysis of copy number variations in an infant with Cri du Chat syndrome by array-based comparative genomic hybridization]. ( 23926013 )
2013
31
Anesthetic experience of a patient with cri du chat syndrome. ( 24363858 )
2013
32
Obstacles to communication in children with cri du chat syndrome. ( 22921333 )
2012
33
Cri du chat syndrome: a series of five cases. ( 23455788 )
2012
34
Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndrome. ( 23320207 )
2012
35
Inflectional morphology in cri du chat syndrome--a case study. ( 21787138 )
2012
36
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
37
Prenatal diagnosis of Cri du Chat syndrome: four cases report. ( 22746208 )
2012
38
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome. ( 22510527 )
2012
39
Assessment of orofacial characteristics and oral pathology associated with cri-du-chat syndrome. ( 22035137 )
2012
40
A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome. ( 21205041 )
2011
41
Cri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation. ( 21601848 )
2011
42
Association between fatigue and autistic symptoms in children with cri du chat syndrome. ( 21740256 )
2011
43
A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome. ( 21271672 )
2011
44
Large distal 5p deletion with hemifacial microsomia and absence of cri-du-chat syndrome. ( 19923986 )
2010
45
Cri du chat syndrome: a critical review. ( 20038906 )
2010
46
Sign communication in Cri du chat syndrome. ( 20400089 )
2010
47
Craniofacial characteristics in cri-du-chat syndrome. ( 21112524 )
2010
48
Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation. ( 21045963 )
2010
49
Anesthetic management of a patient with Cri Du Chat syndrome. Case report. ( 21146059 )
2010
50
Educational Priorities for Children with Cri-Du-Chat Syndrome. ( 20157360 )
2010

Variations for Cri-Du-Chat Syndrome

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

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 191461 5 1 18500000 Copy number CRR9 Cri-du chat syndrome
2 191462 5 1 18500000 Copy number TERT Cri-du chat syndrome
3 191724 5 1 8200000 Copy number Cri-du chat syndrome
4 202445 5 8200000 15100000 Copy number SEMA5A Cri-du chat syndrome
5 202458 5 8200000 15100000 Microdeletion Cri-du chat syndrome

Expression for Cri-Du-Chat Syndrome

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

Pathways for Cri-Du-Chat Syndrome

GO Terms for Cri-Du-Chat Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 axoneme GO:0005930 8.62 DNAH5 SEPT9

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of endothelial cell apoptotic process GO:2000352 8.62 SEMA5A TERT

Sources for Cri-Du-Chat Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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