MCID: CRD002
MIFTS: 50

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 57 12 43 44 15 70
Monosomy 5p 20 43 58 70
Chromosome 5p Deletion Syndrome 57 12 20
5p Partial Monosomy Syndrome 12 29 6
5p Deletion Syndrome 12 20 43
Cat Cry Syndrome 57 20 43
Chromosome 5p- Syndrome 20 43
Cri Du Chat Syndrome 20 58
5p- Syndrome 20 43
Deletion 5p 20 58
Chromosome 5 Short Arm Deletion Syndrome 12
Chromosome 5p Deletion 20
Partial Monosomy 5p 20
5p Minus Syndrome 20
Cri Du Chat 73
5p Deletion 20
5p Monosomy 20

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
incidence 1/50,000 newborns
de novo deletion in 85% patients
unbalanced parental translocation in 10-15% patients
paternal origin in 80-90% patients


HPO:

31
cri-du-chat syndrome:
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Cri-Du-Chat Syndrome

GARD : 20 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 microcephaly and chromosomal triplication. An important gene associated with Cri-Du-Chat Syndrome is CTNND2 (Catenin Delta 2), and among its related pathways/superpathways is Cell adhesion_Endothelial cell contacts by junctional mechanisms. Affiliated tissues include eye, bone and brain, and related phenotypes are wide nasal bridge and microcephaly

Disease Ontology : 12 A syndrome that has material basis in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat.

MedlinePlus Genetics : 43 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® : 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) (Updated 05-Apr-2021)

Wikipedia : 73 Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5.... 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 181)
# Related Disease Score Top Affiliating Genes
1 microcephaly 10.9
2 chromosomal triplication 10.8
3 hypertelorism 10.7
4 alacrima, achalasia, and mental retardation syndrome 10.7
5 hypotonia 10.7
6 ventricular septal defect 10.5
7 heart septal defect 10.5
8 ring chromosome 10.5
9 down syndrome 10.5
10 autism 10.5
11 epicanthus 10.4
12 hemifacial microsomia 10.4
13 patent ductus arteriosus 1 10.4
14 chromosomal deletion syndrome 10.4
15 dysphagia 10.4
16 laryngomalacia 10.3
17 strabismus 10.3
18 chromosome 2q35 duplication syndrome 10.3
19 apraxia 10.3
20 scoliosis 10.3
21 hypospadias 10.3
22 epilepsy 10.3
23 periodontitis 10.3
24 cataract 10.3
25 learning disability 10.3
26 mechanical strabismus 10.3
27 primary ciliary dyskinesia 10.3
28 choroid plexus cyst 10.3
29 encephalocele 10.3
30 ring chromosome 5 10.3
31 partial deletion of the short arm of chromosome 5 10.3
32 mental retardation, autosomal dominant 48 10.3 UBE2QL1 MED10
33 epilepsy, familial adult myoclonic, 1 10.3 MARCHF6 CTNND2
34 intellectual developmental disorder, autosomal dominant 44, with microcephaly 10.2 UBE2QL1 MED10 CTNND2
35 angelman syndrome 10.2
36 aniridia 1 10.2
37 gastroesophageal reflux 10.2
38 sotos syndrome 1 10.2
39 cleft palate, isolated 10.2
40 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
41 cornelia de lange syndrome 1 10.2
42 hirschsprung disease 1 10.2
43 jacobsen syndrome 10.2
44 larynx, congenital partial atresia of 10.2
45 otitis media 10.2
46 pulmonary fibrosis, idiopathic 10.2
47 silver-russell syndrome 1 10.2
48 telecanthus 10.2
49 tetralogy of fallot 10.2
50 vertical talus, congenital 10.2

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 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
4 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
5 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
6 microretrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000308
7 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
8 high pitched voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001620
9 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
10 cat cry 58 31 hallmark (90%) Very frequent (99-80%) HP:0200046
11 hypotonia 31 hallmark (90%) HP:0001252
12 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
13 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
14 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
15 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
16 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
17 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
18 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
19 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
20 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
21 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
22 abnormality of bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004348
23 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
24 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
25 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
26 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
27 intellectual disability 31 HP:0001249
28 muscular hypotonia 58 Very frequent (99-80%)
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 optic atrophy 31 HP:0000648
35 neonatal hypotonia 31 HP:0001319
36 hypertonia 31 HP:0001276
37 gastroesophageal reflux 31 HP:0002020
38 feeding difficulties in infancy 31 HP:0008872
39 stereotypy 31 HP:0000733
40 thick lower lip vermilion 31 HP:0000179
41 malformation of the heart and great vessels 58 Occasional (29-5%)
42 strabismus 31 HP:0000486
43 metatarsus adductus 31 HP:0001840
44 cryptorchidism 31 HP:0000028
45 autism 31 HP:0000717
46 growth delay 31 HP:0001510
47 low-set ears 31 HP:0000369
48 anxiety 31 HP:0000739
49 myopia 31 HP:0000545
50 narrow face 31 HP:0000275

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
agenesis of corpus callosum
cerebellar atrophy
cerebral atrophy
periventricular leukomalacia
more
Neurologic Behavioral Psychiatric Manifestations:
sleep disturbance
attention deficit hyperactivity disorder
self-mutilation
autism spectrum disorder
aggression

Abdomen Gastrointestinal:
constipation
feeding problems

Head And Neck Teeth:
dental malocclusion

Head And Neck Head:
microcephaly
brachycephaly

Head And Neck Face:
micrognathia
round face (infancy & childhood)
long face (adult)

Head And Neck Mouth:
downturned corners of mouth
macrostomia (adult)
thin lips (adult)
high-arced palate (adult)

Head And Neck Ears:
hearing loss
preauricular tags
simple ears
low set ears

Skeletal Pelvis:
small iliac wings

Voice:
high pitched cat-like cry

Growth Other:
failure to thrive
intrauterine growth retardation

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Eyes:
hypertelorism
strabismus
myopia
downslanting palpebral fissures
epicanthal folds

Skeletal Feet:
pes planus
short metatarsals
club feet

Growth Height:
short stature

Cardiovascular Heart:
atrial septal defect
tetralogy of fallot
patent ductus arteriosus
ventricular septal defect

Head And Neck Nose:
broad nasal bridge

Skeletal Hands:
fifth finger clinodactyly
short metacarpals
single transverse palmar creases

Skin Nails Hair Hair:
premature hair graying

Clinical features from OMIM®:

123450 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Cri-Du-Chat Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.36 CTNND1 CTNND2 DNAH5 ERBIN LRRC7 MAGI2

Drugs & Therapeutics for Cri-Du-Chat Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 SNP-based Microdeletion and Aneuploidy RegisTry Completed 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
Eye, Bone, Brain, Heart, Kidney, Lung, Pituitary

Publications for Cri-Du-Chat Syndrome

Articles related to Cri-Du-Chat Syndrome:

(show top 50) (show all 406)
# Title Authors PMID Year
1
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. 61 57
24556499 2014
2
Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion. 61 57
18400035 2008
3
A new genomic mechanism leading to cri-du-chat syndrome. 57 61
17103439 2006
4
High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. 57 61
15635506 2005
5
Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome? 61 57
12825068 2003
6
Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome. 61 57
12629597 2003
7
The first three mosaic cri du chat syndrome patients with two rearranged cell lines. 57 61
11186943 2000
8
Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. 61 57
10673328 2000
9
Cri du chat syndrome: changing phenotype in older patients. 57 61
10678657 2000
10
A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis. 57 61
10424821 1999
11
Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition. 57 61
9916835 1999
12
Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. 57 61
7762563 1995
13
Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. 61 57
8004090 1994
14
The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. 57 61
365706 1978
15
Combination of Goldenhar's syndrome with the Cri-Du-Chat syndrome. 57 61
4974461 1968
16
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
17
5p deletions: Current knowledge and future directions. 57
26235846 2015
18
Isolation of cDNAs from the Cri-du-chat critical region by direct screening of a chromosome 5-specific cDNA library. 57
9049630 1997
19
Terminal deletion of the short arm of chromosome 5. 57
3233775 1988
20
[3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME]. 57
14095841 1963
21
Prenatal diagnosis of Cri-du-Chat syndrome with concomitant distal trisomy 10q syndrome in one fetus with ultrasound anomalies. 61
33678334 2021
22
Retinopathy in a Full-Term Infant with Cri-du-Chat Syndrome. 61
33517598 2021
23
The first case of Cri du Chat syndrome with dystonia. 61
33412510 2021
24
The general movements assessment and effects of an early intervention in an infant with Cri du chat syndrome: a case report. 61
33686841 2021
25
Genetic developmental disability diagnosed in adulthood: a case report. 61
33494837 2021
26
Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5. 61
32519173 2020
27
Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report. 61
31553256 2020
28
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations. 61
32800423 2020
29
Metabolic profiling of organic acids in urine samples of Cri Du Chat syndrome individuals by gas chromatography-mass spectrometry. 61
32739788 2020
30
Sella turcica morphology in patients with genetic syndromes: A systematic review. 61
32920986 2020
31
18F-FDG PET Identifies Altered Brain Metabolism in Patients with Cri du Chat Syndrome. 61
31836684 2020
32
Social Economic Costs, Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome. 61
32824402 2020
33
Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome. 61
32500674 2020
34
Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents. 61
32655341 2020
35
Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication. 61
32487530 2020
36
Feasibility and Reliability of Functional Mobility Measures in Children With Cri du Chat (5P-) Syndrome. 61
32218082 2020
37
Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry. 61
31568707 2020
38
Difficult intubation caused by an immature upper airway in a patient with cri-du-chat syndrome: a case report. 61
32158960 2020
39
Lexical and gestural development in 5p deletion syndrome-A case report. 61
31739224 2020
40
Targeted analysis reveals alteration in pathway in 5p minus individuals. 61
31385327 2020
41
Candidate Genes Associated With Neurological Findings in a Patient With Trisomy 4p16.3 and Monosomy 5p15.2. 61
32625234 2020
42
Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies. 61
32625247 2020
43
Do microdeletions lead to immune deficiency? 61
32425682 2020
44
Rapid prenatal aneuploidy detection of BACs-on-Beads assay in 4961 cases of amniotic fluid samples. 61
31875738 2019
45
Improved memory and reduced anxiety in δ-catenin transgenic mice. 61
30981806 2019
46
Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells. 61
30326779 2019
47
Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study. 61
30941551 2019
48
Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview. 61
30793794 2019
49
Prenatal sonographic diagnosis of isolated fetal ascites in cri-du-chat (5p-) syndrome: A case report. 61
30511740 2019
50
Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome. 61
30711802 2019

Variations for Cri-Du-Chat Syndrome

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 65 genes GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) copy number loss Pathogenic 915985 GRCh37: 5:71904-22078969
GRCh38:
2 overlap with 42 genes GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158) copy number loss Pathogenic 625702 GRCh37: 5:140474-9792158
GRCh38:
3 overlap with 69 genes GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) copy number loss Pathogenic 625701 GRCh37: 5:140474-26906925
GRCh38:

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 CLPTM1L 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

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

# Super pathways Score Top Affiliating Genes
1 10.13 PKP4 CTNND1

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 adherens junction GO:0005912 9.46 PKP4 CTNND2 CTNND1 ARVCF
2 postsynaptic density GO:0014069 9.35 SEMA4C PKP4 MAGI2 LRRC7 CTNND2
3 cell junction GO:0030054 9.23 SEMA4C PKP4 MAGI2 LRRC7 ERBIN CTNND2

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.63 SEMA5A PKP4 ERBIN CTNND2 CTNND1 ARVCF
2 semaphorin-plexin signaling pathway GO:0071526 9.43 SEMA5A SEMA4C
3 receptor clustering GO:0043113 9.4 MAGI2 LRRC7
4 negative regulation of axon extension involved in axon guidance GO:0048843 9.37 SEMA5A SEMA4C
5 cell-cell adhesion GO:0098609 9.35 PKP4 LRRC7 CTNND2 CTNND1 ARVCF
6 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.32 LRRC7 ERBIN
7 regulation of postsynaptic membrane neurotransmitter receptor levels GO:0099072 9.26 ERBIN CTNND1
8 cell-cell junction assembly GO:0007043 8.92 PKP4 CTNND2 CTNND1 ARVCF

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

# Name GO ID Score Top Affiliating Genes
1 chemorepellent activity GO:0045499 9.16 SEMA5A SEMA4C
2 cadherin binding GO:0045296 9.02 SEPTIN9 PKP4 CTNND2 CTNND1 ARVCF
3 semaphorin receptor binding GO:0030215 8.96 SEMA5A SEMA4C

Sources for Cri-Du-Chat Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....