MCID: CRD002
MIFTS: 47

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 57 12 25 44 15 73
Monosomy 5p 53 25 59 73
Chromosome 5p Deletion Syndrome 57 12 53
5p Deletion Syndrome 12 53 25
Cat Cry Syndrome 57 53 25
5p Partial Monosomy Syndrome 12 29
Chromosome 5p- Syndrome 53 25
Cri Du Chat Syndrome 53 59
5p- Syndrome 53 25
Deletion 5p 53 59
Chromosome 5 Short Arm Deletion Syndrome 12
Chromosome 5p Deletion 53
Partial Monosomy 5p 53
5p Minus Syndrome 53
Cri Du Chat 76
5p Deletion 53
5p Monosomy 53

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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.

MalaCards based summary : Cri-Du-Chat Syndrome, also known as monosomy 5p, is related to epilepsy and hirschsprung disease 1. An important gene associated with Cri-Du-Chat Syndrome is CTNND2 (Catenin Delta 2). Affiliated tissues include heart, eye and testes, and related phenotypes are hypertelorism and short neck

OMIM : 57 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)

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.

Wikipedia : 76 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 43)
# Related Disease Score Top Affiliating Genes
1 epilepsy 10.4
2 hirschsprung disease 1 10.2
3 jacobsen syndrome 10.2
4 hemifacial microsomia 10.2
5 autism 10.2
6 peters-plus syndrome 10.2
7 orofaciodigital syndrome viii 10.2
8 brachydactyly, type a1, b 10.2
9 cataract 10.2
10 hydrocephalus 10.2
11 primary ciliary dyskinesia 10.2
12 brachydactyly 10.2
13 autism spectrum disorder 10.2
14 apraxia 10.2
15 scoliosis 10.2
16 heart disease 10.2
17 choroiditis 10.2
18 protein-energy malnutrition 10.2
19 arachnoiditis 10.2
20 ventricular septal defect 10.2
21 infantile epileptic encephalopathy 10.2
22 cervicitis 10.2
23 laryngitis 10.2
24 pseudohypoparathyroidism 10.2
25 learning disability 10.2
26 bronchiectasis 10.2
27 arachnoid cysts 10.2
28 childhood apraxia of speech 10.2
29 choroid plexus cyst 10.2
30 chromosome 17q duplication 10.2
31 encephalocele 10.2
32 ring chromosome 5 10.2
33 eating reflex epilepsy 10.2
34 monosomy 22 10.2
35 chromosome 5p duplication 10.0
36 polyhydramnios 9.9
37 chromosome 12p duplication 9.9
38 chromosome 5q duplication 9.9
39 hypertonia 9.8
40 cerebellar hypoplasia 9.7
41 hypospadias 9.7
42 neuropathy 9.7
43 auditory neuropathy spectrum disorder 9.7

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:

59 32 (show top 50) (show all 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
3 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
4 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
5 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
6 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
7 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
8 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
9 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
10 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
11 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
12 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
13 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
14 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
15 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
16 small hand 59 32 frequent (33%) Frequent (79-30%) HP:0200055
17 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
18 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
19 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
20 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
21 microretrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000308
22 preauricular skin tag 59 32 occasional (7.5%) Occasional (29-5%) HP:0000384
23 high pitched voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001620
24 abnormality of bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004348
25 cat cry 59 32 hallmark (90%) Very frequent (99-80%) HP:0200046
26 low-set ears 32 HP:0000369
27 intellectual disability 32 HP:0001249
28 prominent supraorbital ridges 32 HP:0000336
29 hearing impairment 32 HP:0000365
30 cataract 32 HP:0000518
31 delayed speech and language development 32 HP:0000750
32 pes planus 32 HP:0001763
33 optic atrophy 32 HP:0000648
34 neonatal hypotonia 32 HP:0001319
35 hypertonia 32 HP:0001276
36 gastroesophageal reflux 32 HP:0002020
37 feeding difficulties in infancy 32 HP:0008872
38 stereotypy 32 HP:0000733
39 thick lower lip vermilion 32 HP:0000179
40 malformation of the heart and great vessels 59 Occasional (29-5%)
41 strabismus 32 HP:0000486
42 cryptorchidism 32 HP:0000028
43 autism 32 HP:0000717
44 metatarsus adductus 32 HP:0001840
45 growth delay 32 HP:0001510
46 anxiety 32 HP:0000739
47 myopia 32 HP:0000545
48 abnormality of the pinna 32 HP:0000377
49 premature graying of hair 32 HP:0002216
50 short philtrum 32 HP:0000322

Drugs & Therapeutics for Cri-Du-Chat Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457

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:

# Genetic test Affiliating Genes
1 5p Partial Monosomy Syndrome 29 CTNND2

Anatomical Context for Cri-Du-Chat Syndrome

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

41
Heart, Eye, Testes, Skin, Kidney, Bone, Brain

Publications for Cri-Du-Chat Syndrome

Articles related to Cri-Du-Chat Syndrome:

(show top 50) (show all 190)
# Title Authors Year
1
Effects of Oral Stimulation Intervention in Newborn Babies with Cri du Chat Syndrome: Single-Subject Research Design. ( 29853814 )
2018
2
DNA methylation alterations in the genome of a toddler with cri-du-chat syndrome. ( 29375829 )
2018
3
Cri Du Chat Syndrome ( 29494067 )
2018
4
Cri du Chat syndrome: Characteristics of 73 Brazilian patients. ( 29460462 )
2018
5
A Newly Recognized Association of Hirschsprung Disease With Cri-du-chat Syndrome. ( 28050027 )
2017
6
Neoplasia in Cri du Chat Syndrome from Italian and German Databases. ( 28523196 )
2017
7
Pontine hypoplasia in cri-du-chat syndrome: alterations in diffusion tensor imaging. ( 28676976 )
2017
8
Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients. ( 27144168 )
2016
9
Protein-energy malnutrition is frequent and precocious in children with cri du chat syndrome. ( 26872355 )
2016
10
Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods. ( 28004033 )
2016
11
Temporal and spatial gait parameters in children with Cri du Chat Syndrome under single and dual task conditions. ( 27569649 )
2016
12
Peters anomaly in cri-du-chat syndrome. ( 26059676 )
2015
13
A systematic review of the oral and craniofacial manifestations of cri du chat syndrome. ( 26457586 )
2015
14
Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients. ( 25820652 )
2015
15
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
16
The association between Cri du chat syndrome and dental anomalies. ( 25514263 )
2015
17
Discordance for Cri du Chat Syndrome in a dichorionic-diamniotic twin pregnancy. ( 29629308 )
2015
18
Electroclinical and cytogenetic features of epilepsy in cri-du-chat syndrome. ( 26576006 )
2015
19
Eating epilepsy characterised by late-onset epileptic spasms in a case of Cri du chat syndrome. ( 26552563 )
2015
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
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
Cri du Chat Syndrome:A case report from Ghana. ( 25236835 )
2014
24
When Cri du chat syndrome meets Edwards syndrome. ( 25385231 )
2014
25
Consonant production and intelligibility in cri du chat syndrome. ( 24689530 )
2014
26
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
27
Cri-du-chat syndrome. ( 25488457 )
2014
28
The association between cri du chat syndrome and dental anomalies. ( 25905618 )
2014
29
Narrative discourse and sociocognitive abilities of a child with Cri-du-Chat syndrome. ( 23534097 )
2013
30
Congenital vertical talus in Cri du Chat Syndrome: a case report. ( 23849392 )
2013
31
[Analysis of copy number variations in an infant with Cri du Chat syndrome by array-based comparative genomic hybridization]. ( 23926013 )
2013
32
Brain stem hypoplasia associated with Cri-du-Chat syndrome. ( 24265573 )
2013
33
Determination of periodontopathogens in patients with Cri du chat syndrome. ( 24121919 )
2013
34
A de novo Chromosomal Abnormality in Cri du Chat Syndrome. ( 23900752 )
2013
35
Anesthetic experience of a patient with cri du chat syndrome. ( 24363858 )
2013
36
Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange, and Cri du Chat syndromes. ( 23937369 )
2013
37
Prenatal diagnosis of Cri du Chat syndrome: four cases report. ( 22746208 )
2012
38
Assessment of orofacial characteristics and oral pathology associated with cri-du-chat syndrome. ( 22035137 )
2012
39
Inflectional morphology in cri du chat syndrome--a case study. ( 21787138 )
2012
40
Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndrome. ( 23320207 )
2012
41
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome. ( 22510527 )
2012
42
Obstacles to communication in children with cri du chat syndrome. ( 22921333 )
2012
43
Cri du chat syndrome: a series of five cases. ( 23455788 )
2012
44
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
45
A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome. ( 21205041 )
2011
46
Cri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation. ( 21601848 )
2011
47
Association between fatigue and autistic symptoms in children with cri du chat syndrome. ( 21740256 )
2011
48
A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome. ( 21271672 )
2011
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
# 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:

# 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:

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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