MCID: CRD002
MIFTS: 46

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 58 12 26 45 15 74
Monosomy 5p 54 26 60 74
Chromosome 5p Deletion Syndrome 58 12 54
5p Partial Monosomy Syndrome 12 30 6
5p Deletion Syndrome 12 54 26
Cat Cry Syndrome 58 54 26
Chromosome 5p- Syndrome 54 26
Cri Du Chat Syndrome 54 60
5p- Syndrome 54 26
Deletion 5p 54 60
Chromosome 5 Short Arm Deletion Syndrome 12
Chromosome 5p Deletion 54
Partial Monosomy 5p 54
5p Minus Syndrome 54
Cri Du Chat 77
5p Deletion 54
5p Monosomy 54

Characteristics:

Orphanet epidemiological data:

60
monosomy 5p
Inheritance: Not applicable; Age of onset: Neonatal;

HPO:

33
cri-du-chat syndrome:
Inheritance sporadic


Classifications:



Summaries for Cri-Du-Chat Syndrome

NIH Rare Diseases : 54 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 primary ciliary dyskinesia and epilepsy. 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 muscular hypotonia and wide nasal bridge

Genetics Home Reference : 26 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 : 58 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 : 77 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 56)
# Related Disease Score Top Affiliating Genes
1 primary ciliary dyskinesia 10.5
2 epilepsy 10.5
3 hirschsprung disease 1 10.3
4 jacobsen syndrome 10.3
5 hemifacial microsomia 10.3
6 silver-russell syndrome 10.3
7 down syndrome 10.3
8 autism 10.3
9 peters-plus syndrome 10.3
10 orofaciodigital syndrome viii 10.3
11 brachydactyly, type a1, b 10.3
12 west syndrome 10.3
13 cataract 10.3
14 hydrocephalus 10.3
15 brachydactyly 10.3
16 autism spectrum disorder 10.3
17 apraxia 10.3
18 scoliosis 10.3
19 heart disease 10.3
20 patau syndrome 10.3
21 protein-energy malnutrition 10.3
22 ventricular septal defect 10.3
23 pseudohypoparathyroidism 10.3
24 malignant hyperthermia 10.3
25 learning disability 10.3
26 bronchiectasis 10.3
27 arachnoid cysts 10.3
28 bowenoid papulosis 10.3
29 childhood apraxia of speech 10.3
30 chromosomal triplication 10.3
31 chromosome 17q duplication 10.3
32 encephalocele 10.3
33 ring chromosome 5 10.3
34 xp22.3 microdeletion syndrome 10.3
35 eating reflex epilepsy 10.3
36 monosomy 22 10.3
37 digeorge syndrome 10.3
38 cerebellar hypoplasia 10.3
39 hydrocephalus, congenital, 1 10.3
40 intraocular pressure quantitative trait locus 10.3
41 ring chromosome 14 syndrome 10.3
42 hypospadias 10.3
43 turner syndrome 10.3
44 neuropathy 10.3
45 auditory neuropathy spectrum disorder 10.3
46 chromosome 3p duplication 10.2
47 chromosome 5q duplication 10.2
48 cystic lymphangioma 10.0
49 polyhydramnios 10.0
50 chromosome 14q duplication 10.0

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:

60 33 (show top 50) (show all 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
2 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
3 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
4 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
5 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
6 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
7 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
8 round face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000311
9 microretrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000308
10 high pitched voice 60 33 hallmark (90%) Very frequent (99-80%) HP:0001620
11 cat cry 60 33 hallmark (90%) Very frequent (99-80%) HP:0200046
12 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
13 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
14 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
15 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
16 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
17 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
18 small hand 60 33 frequent (33%) Frequent (79-30%) HP:0200055
19 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
20 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
21 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
22 joint hyperflexibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0005692
23 recurrent fractures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002757
24 preauricular skin tag 60 33 occasional (7.5%) Occasional (29-5%) HP:0000384
25 abnormality of bone mineral density 60 33 occasional (7.5%) Occasional (29-5%) HP:0004348
26 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
27 low-set ears 33 HP:0000369
28 intellectual disability 33 HP:0001249
29 prominent supraorbital ridges 33 HP:0000336
30 hearing impairment 33 HP:0000365
31 cataract 33 HP:0000518
32 delayed speech and language development 33 HP:0000750
33 pes planus 33 HP:0001763
34 optic atrophy 33 HP:0000648
35 neonatal hypotonia 33 HP:0001319
36 hypertonia 33 HP:0001276
37 gastroesophageal reflux 33 HP:0002020
38 feeding difficulties in infancy 33 HP:0008872
39 stereotypy 33 HP:0000733
40 thick lower lip vermilion 33 HP:0000179
41 malformation of the heart and great vessels 60 Occasional (29-5%)
42 strabismus 33 HP:0000486
43 cryptorchidism 33 HP:0000028
44 autism 33 HP:0000717
45 metatarsus adductus 33 HP:0001840
46 growth delay 33 HP:0001510
47 anxiety 33 HP:0000739
48 myopia 33 HP:0000545
49 abnormality of the pinna 33 HP:0000377
50 premature graying of hair 33 HP:0002216

Clinical features from OMIM:

123450

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

27 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.92 TRPV6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.92 CCT5 MTMR12 ZFR
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.92 TRPV6
4 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.92 MTMR12
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.92 CCT5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.92 MTMR12
7 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.92 ZFR
8 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.92 CCT5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.92 TRPV6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.92 MTMR12
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.92 CCT5
12 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.92 ZFR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.92 ZFR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.92 TRPV6
15 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.92 SLC15A4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.92 CCT5 SLC15A4 TRPV6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.92 ZFR
18 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.92 TRPV6
19 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.92 TRPV6
20 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.92 TRPV6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.92 TRPV6
22 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.92 TRPV6
23 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.92 MTMR12
24 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.92 TRPV6
25 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.92 TRPV6
26 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.92 TRPV6
27 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.92 MTMR12
28 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.92 ZFR
29 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.92 MTMR12
30 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.92 SLC15A4
31 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.92 TRPV6

Drugs & Therapeutics for Cri-Du-Chat Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) 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 30

Anatomical Context for Cri-Du-Chat Syndrome

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

42
Heart, Eye, Testes, Skin, Bone, Kidney, Brain

Publications for Cri-Du-Chat Syndrome

Articles related to Cri-Du-Chat Syndrome:

(show top 50) (show all 222)
# Title Authors Year
1
Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome. ( 30985858 )
2019
2
Children and adults affected by Cri du Chat syndrome: Care's recommendations. ( 30838120 )
2019
3
Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome. ( 30711802 )
2019
4
Difficult airway management and suspected malignant hyperthermia in a Child with Cri Du Chat Syndrome. ( 30692897 )
2019
5
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report. ( 30587166 )
2018
6
The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort. ( 30238669 )
2018
7
Effects of Oral Stimulation Intervention in Newborn Babies with Cri du Chat Syndrome: Single-Subject Research Design. ( 29853814 )
2018
8
Cri du Chat syndrome: Characteristics of 73 Brazilian patients. ( 29460462 )
2018
9
DNA methylation alterations in the genome of a toddler with cri-du-chat syndrome. ( 29375829 )
2018
10
Pontine hypoplasia in cri-du-chat syndrome: alterations in diffusion tensor imaging. ( 28676976 )
2017
11
Neoplasia in Cri du Chat Syndrome from Italian and German Databases. ( 28523196 )
2017
12
A Newly Recognized Association of Hirschsprung Disease With Cri-du-chat Syndrome. ( 28050027 )
2017
13
Prenatal diagnosis of partial monosomy 5p (5p15.1→pter) and partial trisomy 7p (7p15.2→pter) associated with cystic hygroma, abnormal skull development, and ventriculomegaly. ( 27590389 )
2016
14
Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods. ( 28004033 )
2016
15
Temporal and spatial gait parameters in children with Cri du Chat Syndrome under single and dual task conditions. ( 27569649 )
2016
16
Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients. ( 27144168 )
2016
17
Protein-energy malnutrition is frequent and precocious in children with cri du chat syndrome. ( 26872355 )
2016
18
A systematic review of the oral and craniofacial manifestations of cri du chat syndrome. ( 26457586 )
2016
19
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
20
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. ( 25782669 )
2015
21
Discordance for Cri du Chat Syndrome in a dichorionic-diamniotic twin pregnancy. ( 29629308 )
2015
22
Electroclinical and cytogenetic features of epilepsy in cri-du-chat syndrome. ( 26576006 )
2015
23
Eating epilepsy characterised by late-onset epileptic spasms in a case of Cri du chat syndrome. ( 26552563 )
2015
24
Peters anomaly in cri-du-chat syndrome. ( 26059676 )
2015
25
Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients. ( 25820652 )
2015
26
When Cri du chat syndrome meets Edwards syndrome. ( 25385231 )
2015
27
The association between Cri du chat syndrome and dental anomalies. ( 25514263 )
2014
28
Cri-du-chat syndrome. ( 25488457 )
2014
29
Cri du Chat Syndrome: a case report from Ghana. ( 25236835 )
2014
30
Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p. ( 25066065 )
2014
31
A clue in the diagnosis of Cri-du-chat syndrome: Pontine hypoplasia. ( 25024576 )
2014
32
Consonant production and intelligibility in cri du chat syndrome. ( 24689530 )
2014
33
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
34
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
35
A de novo chromosomal abnormality in Cri du Chat syndrome. ( 23900752 )
2014
36
Monosomy 5p and partial trisomy 8q due to maternal balanced translocation. ( 24551988 )
2013
37
Partial trisomy 3p and monosomy 5p diagnosed by spectral karyotyping (SKY). ( 24551991 )
2013
38
Anesthetic experience of a patient with cri du chat syndrome. ( 24363858 )
2013
39
Brain stem hypoplasia associated with Cri-du-Chat syndrome. ( 24265573 )
2013
40
Determination of periodontopathogens in patients with Cri du chat syndrome. ( 24121919 )
2013
41
Congenital vertical talus in Cri du Chat Syndrome: a case report. ( 23849392 )
2013
42
Narrative discourse and sociocognitive abilities of a child with Cri-du-Chat syndrome. ( 23534097 )
2013
43
[Analysis of copy number variations in an infant with Cri du Chat syndrome by array-based comparative genomic hybridization]. ( 23926013 )
2013
44
Cri du chat syndrome: a series of five cases. ( 23455788 )
2012
45
Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndrome. ( 23320207 )
2012
46
Obstacles to communication in children with cri du chat syndrome. ( 22921333 )
2012
47
Prenatal diagnosis of Cri du Chat syndrome: four cases report. ( 22746208 )
2012
48
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
49
Assessment of orofacial characteristics and oral pathology associated with cri-du-chat syndrome. ( 22035137 )
2012
50
Inflectional morphology in cri du chat syndrome--a case study. ( 21787138 )
2012

Variations for Cri-Du-Chat Syndrome

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 68 genes:CTNND2; TERT; TRIO GRCh37/hg19 5p15.33-14.1(chr5: 140474-26906925) copy number loss Pathogenic GRCh37 Chromosome 5, 140474: 26906925
2 subset of 42 genes:TERT GRCh37/hg19 5p15.33-15.31(chr5: 140474-9792158) copy number loss Pathogenic GRCh37 Chromosome 5, 140474: 9792158

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

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

# Name GO ID Score Top Affiliating Genes
1 toxin transport GO:1901998 8.96 CCT5 MTMR12
2 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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