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 53 12 24 41 14 69
Monosomy 5p 49 24 55 69
Chromosome 5p Deletion Syndrome 53 12 49
5p Deletion Syndrome 12 49 24
Cat Cry Syndrome 53 49 24
5p Partial Monosomy Syndrome 12 28
Chromosome 5p- Syndrome 49 24
Cri Du Chat Syndrome 49 55
5p- Syndrome 49 24
Deletion 5p 49 55
Chromosome 5 Short Arm Deletion Syndrome 12
Chromosome 5p Deletion 49
Partial Monosomy 5p 49
5p Minus Syndrome 49
Cri Du Chat 72
5p Deletion 49
5p Monosomy 49

Characteristics:

Orphanet epidemiological data:

55
monosomy 5p
Inheritance: Not applicable; Age of onset: Neonatal;

HPO:

31
cri-du-chat syndrome:
Inheritance sporadic


Classifications:



Summaries for Cri-Du-Chat Syndrome

NIH Rare Diseases : 49 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 hirschsprung disease 1, 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.

OMIM : 53 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 : 24 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.

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 42)
# 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 vertical talus, congenital 10.2
6 autism 10.2
7 peters-plus syndrome 10.2
8 orofaciodigital syndrome viii 10.2
9 brachydactyly, type a1, b 10.2
10 cataract 10.2
11 hydrocephalus 10.2
12 primary ciliary dyskinesia 10.2
13 brachydactyly 10.2
14 autism spectrum disorder 10.2
15 apraxia 10.2
16 scoliosis 10.2
17 heart disease 10.2
18 choroiditis 10.2
19 protein-energy malnutrition 10.2
20 arachnoiditis 10.2
21 ventricular septal defect 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 8q duplication 9.9
39 hypertonia 9.8
40 cerebellar hypoplasia 9.7
41 hypospadias 9.7
42 neuropathy 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:

55 31 (show top 50) (show all 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
2 short neck 55 31 frequent (33%) Frequent (79-30%) HP:0000470
3 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
4 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
5 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
6 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
7 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
8 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
9 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
10 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
11 intellectual disability, severe 55 31 hallmark (90%) Very frequent (99-80%) HP:0010864
12 joint hyperflexibility 55 31 occasional (7.5%) Occasional (29-5%) HP:0005692
13 epicanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000286
14 severe global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0011344
15 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
16 small hand 55 31 frequent (33%) Frequent (79-30%) HP:0200055
17 low-set, posteriorly rotated ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000368
18 downslanted palpebral fissures 55 31 frequent (33%) Frequent (79-30%) HP:0000494
19 round face 55 31 hallmark (90%) Very frequent (99-80%) HP:0000311
20 recurrent fractures 55 31 occasional (7.5%) Occasional (29-5%) HP:0002757
21 microretrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000308
22 preauricular skin tag 55 31 occasional (7.5%) Occasional (29-5%) HP:0000384
23 high pitched voice 55 31 hallmark (90%) Very frequent (99-80%) HP:0001620
24 abnormality of bone mineral density 55 31 occasional (7.5%) Occasional (29-5%) HP:0004348
25 cat cry 55 31 hallmark (90%) Very frequent (99-80%) HP:0200046
26 hyperacusis 31 HP:0010780
27 low-set ears 31 HP:0000369
28 intellectual disability 31 HP:0001249
29 prominent supraorbital ridges 31 HP:0000336
30 hearing impairment 31 HP:0000365
31 cataract 31 HP:0000518
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 55 Occasional (29-5%)
42 strabismus 31 HP:0000486
43 cryptorchidism 31 HP:0000028
44 autism 31 HP:0000717
45 metatarsus adductus 31 HP:0001840
46 growth delay 31 HP:0001510
47 anxiety 31 HP:0000739
48 myopia 31 HP:0000545
49 abnormality of the pinna 31 HP:0000377
50 premature graying of hair 31 HP:0002216

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 28

Anatomical Context for Cri-Du-Chat Syndrome

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

38
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 184)
# Title Authors Year
1
DNA methylation alterations in the genome of a toddler with cri-du-chat syndrome. ( 29375829 )
2018
2
Neoplasia in Cri du Chat Syndrome from Italian and German Databases. ( 28523196 )
2017
3
A Newly Recognized Association of Hirschsprung Disease With Cri-du-chat Syndrome. ( 28050027 )
2017
4
Pontine hypoplasia in cri-du-chat syndrome: alterations in diffusion tensor imaging. ( 28676976 )
2017
5
Protein-energy malnutrition is frequent and precocious in children with cri du chat syndrome. ( 26872355 )
2016
6
Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients. ( 27144168 )
2016
7
Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods. ( 28004033 )
2016
8
Temporal and spatial gait parameters in children with Cri du Chat Syndrome under single and dual task conditions. ( 27569649 )
2016
9
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
10
Peters anomaly in cri-du-chat syndrome. ( 26059676 )
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
Eating epilepsy characterised by late-onset epileptic spasms in a case of Cri du chat syndrome. ( 26552563 )
2015
14
Electroclinical and cytogenetic features of epilepsy in cri-du-chat syndrome. ( 26576006 )
2015
15
A systematic review of the oral and craniofacial manifestations of cri du chat syndrome. ( 26457586 )
2015
16
Cri du Chat Syndrome:A case report from Ghana. ( 25236835 )
2014
17
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
18
Cri-du-chat syndrome. ( 25488457 )
2014
19
Consonant production and intelligibility in cri du chat syndrome. ( 24689530 )
2014
20
The association between cri du chat syndrome and dental anomalies. ( 25905618 )
2014
21
A clue in the diagnosis of Cri-du-chat syndrome: Pontine hypoplasia. ( 25024576 )
2014
22
When Cri du chat syndrome meets Edwards syndrome. ( 25385231 )
2014
23
Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p. ( 25066065 )
2014
24
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
25
Anesthetic experience of a patient with cri du chat syndrome. ( 24363858 )
2013
26
Brain stem hypoplasia associated with Cri-du-Chat syndrome. ( 24265573 )
2013
27
Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange, and Cri du Chat syndromes. ( 23937369 )
2013
28
A de novo Chromosomal Abnormality in Cri du Chat Syndrome. ( 23900752 )
2013
29
[Analysis of copy number variations in an infant with Cri du Chat syndrome by array-based comparative genomic hybridization]. ( 23926013 )
2013
30
Narrative discourse and sociocognitive abilities of a child with Cri-du-Chat syndrome. ( 23534097 )
2013
31
Congenital vertical talus in Cri du Chat Syndrome: a case report. ( 23849392 )
2013
32
Determination of periodontopathogens in patients with Cri du chat syndrome. ( 24121919 )
2013
33
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
34
Cri du chat syndrome: a series of five cases. ( 23455788 )
2012
35
Inflectional morphology in cri du chat syndrome--a case study. ( 21787138 )
2012
36
Obstacles to communication in children with cri du chat syndrome. ( 22921333 )
2012
37
Assessment of orofacial characteristics and oral pathology associated with cri-du-chat syndrome. ( 22035137 )
2012
38
Prenatal diagnosis of Cri du Chat syndrome: four cases report. ( 22746208 )
2012
39
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome. ( 22510527 )
2012
40
Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndrome. ( 23320207 )
2012
41
Association between fatigue and autistic symptoms in children with cri du chat syndrome. ( 21740256 )
2011
42
A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome. ( 21205041 )
2011
43
A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome. ( 21271672 )
2011
44
Cri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation. ( 21601848 )
2011
45
Large distal 5p deletion with hemifacial microsomia and absence of cri-du-chat syndrome. ( 19923986 )
2010
46
Sign communication in Cri du chat syndrome. ( 20400089 )
2010
47
Anesthetic management of a patient with Cri Du Chat syndrome. Case report. ( 21146059 )
2010
48
Educational Priorities for Children with Cri-Du-Chat Syndrome. ( 20157360 )
2010
49
Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation. ( 21045963 )
2010
50
Cri du chat syndrome: a critical review. ( 20038906 )
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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