MCID: CRD002
MIFTS: 48

Cri-Du-Chat Syndrome

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

Aliases & Classifications for Cri-Du-Chat Syndrome

MalaCards integrated aliases for Cri-Du-Chat Syndrome:

Name: Cri-Du-Chat Syndrome 56 12 25 43 15 71
Monosomy 5p 52 25 58 71
Chromosome 5p Deletion Syndrome 56 12 52
5p Partial Monosomy Syndrome 12 29 6
5p Deletion Syndrome 12 52 25
Cat Cry Syndrome 56 52 25
Chromosome 5p- Syndrome 52 25
Cri Du Chat Syndrome 52 58
5p- Syndrome 52 25
Deletion 5p 52 58
Chromosome 5 Short Arm Deletion Syndrome 12
Chromosome 5p Deletion 52
Partial Monosomy 5p 52
5p Minus Syndrome 52
Cri Du Chat 74
5p Deletion 52
5p Monosomy 52

Characteristics:

Orphanet epidemiological data:

58
monosomy 5p
Inheritance: Not applicable; Age of onset: Neonatal;

HPO:

31
cri-du-chat syndrome:
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Cri-Du-Chat Syndrome

NIH Rare Diseases : 52 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 chromosomal deletion syndrome and microcephaly. An important gene associated with Cri-Du-Chat Syndrome is CTNND2 (Catenin Delta 2). Affiliated tissues include heart, testes and eye, and related phenotypes are muscular hypotonia and wide nasal bridge

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 : 56 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 : 74 Cri du chat syndrome, is a rare genetic disorder due to chromosome deletion on chromosome 5. Its name is... 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 top 50) (show all 173)
# Related Disease Score Top Affiliating Genes
1 chromosomal deletion syndrome 30.8 TRPV6 PTER CTNND2 ARVCF
2 microcephaly 11.0
3 chromosomal triplication 10.9
4 hypertelorism 10.8
5 alacrima, achalasia, and mental retardation syndrome 10.8
6 hypotonia 10.8
7 autism 10.7
8 autism spectrum disorder 10.7
9 ventricular septal defect 10.7
10 heart septal defect 10.7
11 cornelia de lange syndrome 1 10.6
12 hemifacial microsomia 10.6
13 down syndrome 10.6
14 cornelia de lange syndrome 10.6
15 ring chromosome 10.6
16 epicanthus 10.6
17 patent ductus arteriosus 1 10.6
18 craniofacial microsomia 10.6
19 dysphagia 10.6
20 angelman syndrome 10.5
21 laryngomalacia 10.5
22 strabismus 10.5
23 chromosome 2q35 duplication syndrome 10.5
24 ataxia and polyneuropathy, adult-onset 10.5
25 apraxia 10.5
26 scoliosis 10.5
27 periodontitis 10.5
28 cataract 10.5
29 learning disability 10.5
30 mechanical strabismus 10.5
31 primary ciliary dyskinesia 10.5
32 47,xyy 10.5
33 choroid plexus cyst 10.5
34 encephalocele 10.5
35 partial deletion of the short arm of chromosome 5 10.5
36 mental retardation, autosomal dominant 44 10.3 UBE2QL1 CTNND2
37 aniridia 1 10.3
38 gastroesophageal reflux 10.3
39 sotos syndrome 1 10.3
40 cleft palate, isolated 10.3
41 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.3
42 hirschsprung disease 1 10.3
43 jacobsen syndrome 10.3
44 larynx, congenital partial atresia of 10.3
45 marfan syndrome 10.3
46 otitis media 10.3
47 prader-willi syndrome 10.3
48 silver-russell syndrome 10.3
49 smith-magenis syndrome 10.3
50 telecanthus 10.3

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

Human phenotypes related to Cri-Du-Chat Syndrome:

58 31 (show top 50) (show all 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
6 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
7 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
8 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
9 microretrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000308
10 high pitched voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001620
11 cat cry 58 31 hallmark (90%) Very frequent (99-80%) HP:0200046
12 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
13 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
14 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
15 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
16 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
17 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
18 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
19 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
20 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
21 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
22 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
23 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
24 abnormality of bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004348
25 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
26 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
27 low-set ears 31 HP:0000369
28 intellectual disability 31 HP:0001249
29 hearing impairment 31 HP:0000365
30 cataract 31 HP:0000518
31 prominent supraorbital ridges 31 HP:0000336
32 delayed speech and language development 31 HP:0000750
33 pes planus 31 HP:0001763
34 cryptorchidism 31 HP:0000028
35 neonatal hypotonia 31 HP:0001319
36 short metacarpal 31 HP:0010049
37 optic atrophy 31 HP:0000648
38 hypertonia 31 HP:0001276
39 gastroesophageal reflux 31 HP:0002020
40 feeding difficulties in infancy 31 HP:0008872
41 stereotypy 31 HP:0000733
42 short philtrum 31 HP:0000322
43 hyperactivity 31 HP:0000752
44 thick lower lip vermilion 31 HP:0000179
45 malformation of the heart and great vessels 58 Occasional (29-5%)
46 strabismus 31 HP:0000486
47 autism 31 HP:0000717
48 metatarsus adductus 31 HP:0001840
49 growth delay 31 HP:0001510
50 anxiety 31 HP:0000739

Clinical features from OMIM:

123450

Drugs & Therapeutics for Cri-Du-Chat Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood Completed NCT02109770
2 Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT01852708
3 SNP-based Microdeletion and Aneuploidy RegisTry Active, not 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

Anatomical Context for Cri-Du-Chat Syndrome

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

40
Heart, Testes, Eye, Bone, Brain, Kidney, Skin

Publications for Cri-Du-Chat Syndrome

Articles related to Cri-Du-Chat Syndrome:

(show top 50) (show all 386)
# Title Authors PMID Year
1
Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion. 61 56
18400035 2008
2
A new genomic mechanism leading to cri-du-chat syndrome. 61 56
17103439 2006
3
High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. 61 56
15635506 2005
4
Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome? 61 56
12825068 2003
5
Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome. 61 56
12629597 2003
6
The first three mosaic cri du chat syndrome patients with two rearranged cell lines. 61 56
11186943 2000
7
Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. 61 56
10673328 2000
8
Cri du chat syndrome: changing phenotype in older patients. 61 56
10678657 2000
9
Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition. 61 56
9916835 1999
10
Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. 61 56
7762563 1995
11
Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. 61 56
8004090 1994
12
The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. 61 56
365706 1978
13
Combination of Goldenhar's syndrome with the Cri-Du-Chat syndrome. 61 56
4974461 1968
14
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. 6
25782669 2015
15
Isolation of cDNAs from the Cri-du-chat critical region by direct screening of a chromosome 5-specific cDNA library. 56
9049630 1997
16
Terminal deletion of the short arm of chromosome 5. 56
3233775 1988
17
Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry. 61
31568707 2020
18
Targeted analysis reveals alteration in pathway in 5p minus individuals. 61
31385327 2020
19
Rapid prenatal aneuploidy detection of BACs-on-Beads assay in 4961 cases of amniotic fluid samples. 61
31875738 2019
20
18F-fluorodexyglucose Position Emission Tomography identifies altered brain metabolism in patients with Cri du Chat syndrome. 61
31836684 2019
21
Lexical and gestural development in 5p deletion syndrome-A case report. 61
31739224 2019
22
Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report. 61
31553256 2019
23
Improved memory and reduced anxiety in δ-catenin transgenic mice. 61
30981806 2019
24
Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells. 61
30326779 2019
25
Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study. 61
30941551 2019
26
Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview. 61
30793794 2019
27
Prenatal sonographic diagnosis of isolated fetal ascites in cri-du-chat (5p-) syndrome: A case report. 61
30511740 2019
28
Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome. 61
30711802 2019
29
Children and adults affected by Cri du Chat syndrome: Care's recommendations. 61
30838120 2019
30
Difficult airway management and suspected malignant hyperthermia in a Child with Cri Du Chat Syndrome. 61
30692897 2019
31
Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome. 61
30985858 2019
32
Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature. 61
31827621 2019
33
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report. 61
30587166 2018
34
The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort. 61
30238669 2018
35
[Cri-du-chat syndrome in neonatal period]. 61
29996194 2018
36
Cri du Chat syndrome: Characteristics of 73 Brazilian patients. 61
29460462 2018
37
Mental Health and Well-Being in Mothers of Children With Rare Genetic Syndromes Showing Chronic Challenging Behavior: A Cross-Sectional and Longitudinal Study. 61
29671635 2018
38
[Genetic analysis of a case with atypical neonatal Cri-du-chat syndrome]. 61
29419873 2018
39
DNA methylation alterations in the genome of a toddler with cri-du-chat syndrome. 61
29375829 2018
40
Effects of Oral Stimulation Intervention in Newborn Babies with Cri du Chat Syndrome: Single-Subject Research Design. 61
29853814 2018
41
Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics. 61
29760780 2018
42
Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies. 61
29492108 2018
43
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. 61
29032050 2017
44
Pontine hypoplasia in cri-du-chat syndrome: alterations in diffusion tensor imaging. 61
28676976 2017
45
Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter. 61
28599099 2017
46
Neuropathologic Examination in Sudden Unexpected Deaths in Infancy and Childhood: Recommendations for Highest Diagnostic Yield and Cost-Effectiveness in Forensic Settings. 61
31239973 2017
47
[Prenatal diagnosis of a fetus with 5p15.33 microdeletion]. 61
28604968 2017
48
Profiles of amino acids and biogenic amines in the plasma of Cri-du-Chat patients. 61
28351018 2017
49
Neoplasia in Cri du Chat Syndrome from Italian and German Databases. 61
28523196 2017
50
A Newly Recognized Association of Hirschsprung Disease With Cri-du-chat Syndrome. 61
28050027 2017

Variations for Cri-Du-Chat Syndrome

ClinVar genetic disease variations for Cri-Du-Chat Syndrome:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 68 genes: CTNND2 , TERT , TRIO GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)copy number loss Pathogenic 625701 5:140474-26906925
2 subset of 42 genes: TERT GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158)copy number loss Pathogenic 625702 5:140474-9792158

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

7
# CNVD ID Chromosome 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 postsynaptic density GO:0014069 9.46 SEMA4C PKP4 LRRC7 CTNND2
2 cell-cell junction GO:0005911 9.26 PKP4 LRRC7 CTNND2 ARVCF
3 cell-cell adherens junction GO:0005913 8.92 PKP4 LRRC7 CTNND2 ARVCF

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 9.26 TERT SEMA5A
2 cell-cell adhesion GO:0098609 9.26 PKP4 LRRC7 CTNND2 ARVCF
3 negative regulation of axon extension involved in axon guidance GO:0048843 9.16 SEMA5A SEMA4C
4 cell-cell junction assembly GO:0007043 8.8 PKP4 CTNND2 ARVCF

Molecular functions related to Cri-Du-Chat Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 semaphorin receptor binding GO:0030215 8.96 SEMA5A SEMA4C
2 cadherin binding GO:0045296 8.92 SEPTIN9 PKP4 CTNND2 ARVCF

Sources for Cri-Du-Chat Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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