MCID: CRD002
MIFTS: 48

Cri-Du-Chat Syndrome malady

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

Aliases & Classifications for Cri-Du-Chat Syndrome

Aliases & Descriptions 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
Chromosome 5p- Syndrome 50 25
Partial Monosomy 5p 50 29
Deletion 5p 50 56
Chromosome 5 Short Arm Deletion Syndrome 12
5p Partial Monosomy Syndrome 12
Chromosome 5p Deletion 50
5p Minus Syndrome 50
Cri Du Chat 71
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:



External Ids:

OMIM 54 123450
Disease Ontology 12 DOID:12580
ICD10 33 Q93.4
ICD9CM 35 758.31
MeSH 42 D003410
NCIt 47 C34518
SNOMED-CT 64 70173007
Orphanet 56 ORPHA281
MESH via Orphanet 43 D003410 C538482
UMLS via Orphanet 70 C0010314 C2931860
ICD10 via Orphanet 34 Q93.4
UMLS 69 C0010314

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 choroiditis, and has symptoms including hypertelorism, short neck and finger syndactyly. An important gene associated with Cri-Du-Chat Syndrome is CTNND2 (Catenin Delta 2). Affiliated tissues include heart, eye and testes.

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... (123450) more...

Wikipedia : 71 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 35)
id Related Disease Score Top Affiliating Genes
1 epilepsy 10.3
2 choroiditis 10.1
3 encephalocele 10.1
4 protein-energy malnutrition 10.1
5 ring chromosome 5 10.1
6 peters anomaly 10.1
7 arachnoiditis 10.1
8 ventricular septal defect 10.1
9 monosomy 22 10.1
10 jacobsen syndrome 10.1
11 hemifacial microsomia 10.1
12 cervicitis 10.1
13 laryngitis 10.1
14 cataract 10.1
15 pseudohypoparathyroidism 10.1
16 hydrocephalus 10.1
17 primary ciliary dyskinesia 10.1
18 brachydactyly 10.1
19 learning disability 10.1
20 autism spectrum disorder 10.1
21 bronchiectasis 10.1
22 apraxia 10.1
23 arachnoid cysts 10.1
24 scoliosis 10.1
25 childhood apraxia of speech 10.1
26 heart disease 10.1
27 choroid plexus cyst 10.1
28 polyhydramnios 9.8
29 hypertonia 9.7
30 dandy-walker syndrome 9.7
31 cerebellar hypoplasia 9.6
32 neuropathy 9.6
33 auditory neuropathy 9.6
34 hypospadias 9.6
35 ermine phenotype 8.5 ASAP2 CDH12 CTNND2 DNAH5 MTMR12 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 hypertelorism 56 32 Frequent (79-30%) HP:0000316
2 short neck 56 32 Frequent (79-30%) HP:0000470
3 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
4 high palate 56 32 Frequent (79-30%) HP:0000218
5 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
6 scoliosis 56 32 Frequent (79-30%) HP:0002650
7 inguinal hernia 56 32 Occasional (29-5%) HP:0000023
8 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
9 microcephaly 56 32 Very frequent (99-80%) HP:0000252
10 short stature 56 32 Frequent (79-30%) HP:0004322
11 intellectual disability, severe 56 32 Very frequent (99-80%) HP:0010864
12 joint hyperflexibility 56 32 Occasional (29-5%) HP:0005692
13 epicanthus 56 32 Very frequent (99-80%) HP:0000286
14 severe global developmental delay 56 32 Very frequent (99-80%) HP:0011344
15 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
16 small hand 56 32 Frequent (79-30%) HP:0200055
17 low-set, posteriorly rotated ears 56 32 Very frequent (99-80%) HP:0000368
18 downslanted palpebral fissures 56 32 Frequent (79-30%) HP:0000494
19 round face 56 32 Very frequent (99-80%) HP:0000311
20 recurrent fractures 56 32 Occasional (29-5%) HP:0002757
21 microretrognathia 56 32 Very frequent (99-80%) HP:0000308
22 preauricular skin tag 56 32 Occasional (29-5%) HP:0000384
23 high pitched voice 56 32 Very frequent (99-80%) HP:0001620
24 abnormality of bone mineral density 56 32 Occasional (29-5%) HP:0004348
25 cat cry 56 32 Very frequent (99-80%) HP:0200046
26 hyperacusis 32 HP:0010780
27 low-set ears 32 HP:0000369
28 intellectual disability 32 HP:0001249
29 prominent supraorbital ridges 32 HP:0000336
30 hearing impairment 32 HP:0000365
31 cataract 32 HP:0000518
32 delayed speech and language development 32 HP:0000750
33 pes planus 32 HP:0001763
34 optic atrophy 32 HP:0000648
35 neonatal hypotonia 32 HP:0001319
36 hypertonia 32 HP:0001276
37 gastroesophageal reflux 32 HP:0002020
38 feeding difficulties in infancy 32 HP:0008872
39 stereotypy 32 HP:0000733
40 thick lower lip vermilion 32 HP:0000179
41 malformation of the heart and great vessels 56 Occasional (29-5%)
42 strabismus 32 HP:0000486
43 cryptorchidism 32 HP:0000028
44 autism 32 HP:0000717
45 metatarsus adductus 32 HP:0001840
46 anxiety 32 HP:0000739
47 growth delay 32 HP:0001510
48 abnormality of the pinna 32 HP:0000377
49 premature graying of hair 32 HP:0002216
50 myopia 32 HP:0000545

Drugs & Therapeutics for Cri-Du-Chat Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
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
Heart, Eye, Testes, Bone, Skin, Kidney, Brain

Publications for Cri-Du-Chat Syndrome

Articles related to Cri-Du-Chat Syndrome:

(show top 50) (show all 181)
id Title Authors Year
1
Neoplasia in Cri du Chat Syndrome from Italian and German Databases. ( 28523196 )
2017
2
A Newly Recognized Association of Hirschsprung Disease With Cri-du-chat Syndrome. ( 28050027 )
2017
3
Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods. ( 28004033 )
2016
4
Temporal and spatial gait parameters in children with Cri du Chat Syndrome under single and dual task conditions. ( 27569649 )
2016
5
Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients. ( 27144168 )
2016
6
Protein-energy malnutrition is frequent and precocious in children with cri du chat syndrome. ( 26872355 )
2016
7
A systematic review of the oral and craniofacial manifestations of cri du chat syndrome. ( 26457586 )
2015
8
Peters anomaly in cri-du-chat syndrome. ( 26059676 )
2015
9
Eating epilepsy characterised by late-onset epileptic spasms in a case of Cri du chat syndrome. ( 26552563 )
2015
10
Electroclinical and cytogenetic features of epilepsy in cri-du-chat syndrome. ( 26576006 )
2015
11
Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients. ( 25820652 )
2015
12
The association between Cri du chat syndrome and dental anomalies. ( 25514263 )
2015
13
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
14
When Cri du chat syndrome meets Edwards syndrome. ( 25385231 )
2014
15
Cri-du-chat syndrome. ( 25488457 )
2014
16
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
17
Cri du Chat Syndrome:A case report from Ghana. ( 25236835 )
2014
18
Consonant production and intelligibility in cri du chat syndrome. ( 24689530 )
2014
19
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
20
A clue in the diagnosis of Cri-du-chat syndrome: Pontine hypoplasia. ( 25024576 )
2014
21
Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p. ( 25066065 )
2014
22
The association between cri du chat syndrome and dental anomalies. ( 25905618 )
2014
23
Determination of periodontopathogens in patients with Cri du chat syndrome. ( 24121919 )
2013
24
Anesthetic experience of a patient with cri du chat syndrome. ( 24363858 )
2013
25
Congenital vertical talus in Cri du Chat Syndrome: a case report. ( 23849392 )
2013
26
A de novo Chromosomal Abnormality in Cri du Chat Syndrome. ( 23900752 )
2013
27
Brain stem hypoplasia associated with Cri-du-Chat syndrome. ( 24265573 )
2013
28
Narrative discourse and sociocognitive abilities of a child with Cri-du-Chat syndrome. ( 23534097 )
2013
29
Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange, and Cri du Chat syndromes. ( 23937369 )
2013
30
Prenatal diagnosis of Cri du Chat syndrome: four cases report. ( 22746208 )
2012
31
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
32
Cri du chat syndrome: a series of five cases. ( 23455788 )
2012
33
Inflectional morphology in cri du chat syndrome--a case study. ( 21787138 )
2012
34
Assessment of orofacial characteristics and oral pathology associated with cri-du-chat syndrome. ( 22035137 )
2012
35
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome. ( 22510527 )
2012
36
Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndrome. ( 23320207 )
2012
37
Obstacles to communication in children with cri du chat syndrome. ( 22921333 )
2012
38
Association between fatigue and autistic symptoms in children with cri du chat syndrome. ( 21740256 )
2011
39
Cri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation. ( 21601848 )
2011
40
A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome. ( 21205041 )
2011
41
A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome. ( 21271672 )
2011
42
Cri du chat syndrome: a critical review. ( 20038906 )
2010
43
Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation. ( 21045963 )
2010
44
Sign communication in Cri du chat syndrome. ( 20400089 )
2010
45
Large distal 5p deletion with hemifacial microsomia and absence of cri-du-chat syndrome. ( 19923986 )
2010
46
Educational Priorities for Children with Cri-Du-Chat Syndrome. ( 20157360 )
2010
47
Anesthetic management of a patient with Cri Du Chat syndrome. Case report. ( 21146059 )
2010
48
Craniofacial characteristics in cri-du-chat syndrome. ( 21112524 )
2010
49
Sleep in individuals with Cri du Chat syndrome: a comparative study. ( 19508289 )
2009
50
Grammatical constructions in Cri du chat syndrome--findings from a case study. ( 20001303 )
2009

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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