MCID: CRD002
MIFTS: 44

Cri-Du-Chat Syndrome malady

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

Aliases & Classifications for Cri-Du-Chat Syndrome

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Sources:
10Disease Ontology, 23Genetics Home Reference, 12DISEASES, 36MeSH, 65UMLS, 68Wikipedia, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 37MESH via Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cri-Du-Chat Syndrome:

Name: Cri-Du-Chat Syndrome 10 23 12 36 65
5p Deletion Syndrome 10 68 45 23
Cat Cry Syndrome 68 45 22 23
5p- Syndrome 68 45 22 23
Monosomy 5p 45 23 51 65
Cri Du Chat Syndrome 45 22 51
Chromosome 5p Deletion Syndrome 10 45
Chromosome 5p- Syndrome 45 23
Partial Monosomy 5p 45 24
 
Deletion 5p 45 51
Chromosome 5 Short Arm Deletion Syndrome 10
5p Partial Monosomy Syndrome 10
Chromosome 5p Deletion 45
5p Minus Syndrome 45
5p Monosomy 45
5p Deletion 45
Cri Du Chat 68

Characteristics:

Orphanet epidemiological data:

51
monosomy 5p:
Inheritance: Not applicable; Age of onset: Neonatal

HPO:

61
Inheritance: sporadic


Classifications:



External Ids:

Disease Ontology10 DOID:12580
ICD1027 Q93.4
ICD9CM29 758.31
MeSH36 D003410
NCIt42 C34518
SNOMED-CT59 70173007
Orphanet51 281
MESH via Orphanet37 D003410, C538482
UMLS via Orphanet66 C0010314, C2931860
ICD10 via Orphanet28 Q93.4
UMLS65 C0010314, C2931860

Summaries for Cri-Du-Chat Syndrome

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NIH Rare Diseases:45 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 5p deletion syndrome, is related to peters anomaly and jacobsen syndrome, and has symptoms including cognitive impairment, abnormality of chromosome segregation and abnormality of the voice. An important gene associated with Cri-Du-Chat Syndrome is CTNND2 (Catenin Delta 2). Affiliated tissues include heart, testes and eye.

Genetics Home Reference:23 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:68 Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− (said minus) syndrome or... more...

Related Diseases for Cri-Du-Chat Syndrome

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Graphical network of the top 20 diseases related to Cri-Du-Chat Syndrome:



Diseases related to cri-du-chat syndrome

Symptoms for Cri-Du-Chat Syndrome

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Symptoms:

 51 (show all 25)
  • microcephaly
  • round face
  • micrognathia/retrognathia/micrognathism/retrognathism
  • epicanthic folds
  • broad nasal root
  • low set ears/posteriorly rotated ears
  • abnormal cry/voice/phonation disorder/nasal speech
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • total/partial trisomy/duplication
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • high vaulted/narrow palate
  • short neck
  • scoliosis
  • small hand/acromicria
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • preauricular/branchial tags/appendages
  • inguinal/inguinoscrotal/crural hernia
  • syndactyly of fingers/interdigital palm
  • congenital cardiac anomaly/malformation/cardiopathy
  • abnormal/absent ossification
  • mutiple fractures/bone fragility
  • hyperextensible joints/articular hyperlaxity

HPO human phenotypes related to Cri-Du-Chat Syndrome:

(show all 93)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 abnormality of chromosome segregation hallmark (90%) HP:0002916
3 abnormality of the voice hallmark (90%) HP:0001608
4 muscular hypotonia hallmark (90%) HP:0001252
5 wide nasal bridge hallmark (90%) HP:0000431
6 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
7 micrognathia hallmark (90%) HP:0000347
8 round face hallmark (90%) HP:0000311
9 epicanthus hallmark (90%) HP:0000286
10 microcephaly hallmark (90%) HP:0000252
11 short stature typical (50%) HP:0004322
12 short palm typical (50%) HP:0004279
13 scoliosis typical (50%) HP:0002650
14 intrauterine growth retardation typical (50%) HP:0001511
15 downslanted palpebral fissures typical (50%) HP:0000494
16 short neck typical (50%) HP:0000470
17 hypertelorism typical (50%) HP:0000316
18 abnormality of the palate typical (50%) HP:0000174
19 finger syndactyly occasional (7.5%) HP:0006101
20 abnormality of bone mineral density occasional (7.5%) HP:0004348
21 hernia of the abdominal wall occasional (7.5%) HP:0004299
22 recurrent fractures occasional (7.5%) HP:0002757
23 joint hypermobility occasional (7.5%) HP:0001382
24 preauricular skin tag occasional (7.5%) HP:0000384
25 cat cry HP:0200046
26 overfriendliness HP:0100025
27 conspicuously happy disposition HP:0100024
28 abnormality of cardiovascular system morphology HP:0030680
29 oppositional defiant disorder HP:0010865
30 hyperacusis HP:0010780
31 short metatarsal HP:0010743
32 echolalia HP:0010529
33 short metacarpal HP:0010049
34 anterior open-bite malocclusion HP:0009102
35 feeding difficulties in infancy HP:0008872
36 recurrent infections in infancy and early childhood HP:0005437
37 functional respiratory abnormality HP:0002795
38 downturned corners of mouth HP:0002714
39 scoliosis HP:0002650
40 difficulty walking HP:0002355
41 premature graying of hair HP:0002216
42 gastroesophageal reflux HP:0002020
43 metatarsus adductus HP:0001840
44 pes planus HP:0001763
45 diastasis recti HP:0001540
46 small for gestational age HP:0001518
47 growth delay HP:0001510
48 neonatal hypotonia HP:0001319
49 hypertonia HP:0001276
50 intellectual disability HP:0001249
51 syndactyly HP:0001159
52 high axial triradius HP:0001042
53 single transverse palmar crease HP:0000954
54 hyperactivity HP:0000752
55 delayed speech and language development HP:0000750
56 self-mutilation HP:0000742
57 anxiety HP:0000739
58 short attention span HP:0000736
59 stereotypic behavior HP:0000733
60 aggressive behavior HP:0000718
61 autism HP:0000717
62 optic atrophy HP:0000648
63 myopia HP:0000545
64 cataract HP:0000518
65 downslanted palpebral fissures HP:0000494
66 strabismus HP:0000486
67 short neck HP:0000470
68 wide nasal bridge HP:0000431
69 stenosis of the external auditory canal HP:0000402
70 preauricular skin tag HP:0000384
71 abnormality of the pinna HP:0000377
72 low-set ears HP:0000369
73 hearing impairment HP:0000365
74 prominent supraorbital ridges HP:0000336
75 facial asymmetry HP:0000324
76 short philtrum HP:0000322
77 hypertelorism HP:0000316
78 round face HP:0000311
79 microretrognathia HP:0000308
80 epicanthus HP:0000286
81 long face HP:0000276
82 narrow face HP:0000275
83 facial grimacing HP:0000273
84 microcephaly HP:0000252
85 high palate HP:0000218
86 oral cleft HP:0000202
87 bifid uvula HP:0000193
88 thick lower lip vermilion HP:0000179
89 abnormality of the kidney HP:0000077
90 hypospadias HP:0000047
91 cryptorchidism HP:0000028
92 inguinal hernia HP:0000023
93 high pitched voice HP:0001620

UMLS symptoms related to Cri-Du-Chat Syndrome:


cri du chat

Drugs & Therapeutics for Cri-Du-Chat Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1SNP-based Microdeletion and Aneuploidy RegisTry (SMART)RecruitingNCT02381457
2Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNARecruitingNCT02109770
3Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal BloodRecruitingNCT01852708

Search NIH Clinical Center for Cri-Du-Chat Syndrome


Cochrane evidence based reviews: cri-du-chat syndrome

Genetic Tests for Cri-Du-Chat Syndrome

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Genetic tests related to Cri-Du-Chat Syndrome:

id Genetic test Affiliating Genes
1 Cri Du Chat Syndrome22

Anatomical Context for Cri-Du-Chat Syndrome

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

33
Heart, Testes, Eye, Bone, B cells, Prostate, Skin

Animal Models for Cri-Du-Chat Syndrome or affiliated genes

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Publications for Cri-Du-Chat Syndrome

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Articles related to Cri-Du-Chat Syndrome:

(show top 50)    (show all 177)
idTitleAuthorsYear
1
Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients. (27144168)
2016
2
Eating epilepsy characterised by late-onset epileptic spasms in a case of Cri du chat syndrome. (26552563)
2015
3
Cri du Chat Syndrome:A case report from Ghana. (25236835)
2014
4
When Cri du chat syndrome meets Edwards syndrome. (25385231)
2014
5
Congenital vertical talus in Cri du Chat Syndrome: a case report. (23849392)
2013
6
Anesthetic experience of a patient with cri du chat syndrome. (24363858)
2013
7
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome. (22510527)
2012
8
Prenatal diagnosis of Cri du Chat syndrome: four cases report. (22746208)
2012
9
Anesthetic management of a patient with Cri Du Chat syndrome. Case report. (21146059)
2010
10
Speech and language development in cri du chat syndrome: a critical review. (18484284)
2008
11
Consonants in Cri du chat syndrome: a case study. (17949737)
2008
12
Functional analysis and treatment of chronic hair pulling in a child with cri du chat syndrome: effects on co-occurring thumb sucking. (22477674)
2008
13
Correlation between ultrasound and pathological examination in a prenatal diagnosis of Cri du Chat syndrome associated with partial trisomy 17q. (18444226)
2008
14
Cri du Chat syndrome. (16953888)
2006
15
A new genomic mechanism leading to cri-du-chat syndrome. (17103439)
2006
16
Cri du Chat syndrome: a case report. (16463600)
2005
17
Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. (15657623)
2005
18
A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome. (11869383)
2002
19
Growth study of cri du chat syndrome. (11567947)
2001
20
Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome. (10482877)
1999
21
Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition. (9916835)
1999
22
Cri-du-chat syndrome diagnosed by amniocentesis performed due to abnormal maternal serum test. (9826907)
1998
23
Families of children with 5p- (cri du chat) syndrome: familial stress and sibling reactions. (9393890)
1997
24
Cri du chat syndrome. (9715326)
1996
25
Developmental and behavioural characteristics of cri du chat syndrome. (8957962)
1996
26
Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescence in situ hybridization (FISH). (8149646)
1994
27
Cri du chat syndrome due to meiotic recombination in a pericentric inversion 5 carrier. (1606717)
1992
28
Phonatory and phonetic characteristics of prelinguistic vocal development in cri du chat syndrome. (2050838)
1991
29
Phenotypic and phoniatric findings in mosaic cri du chat syndrome. (1877615)
1991
30
Two cases of cri-du-chat syndrome with mild phenotypic effect but with different size of 5p deletion. (2206616)
1990
31
De novo inv(5)(p15q22), del(5)(p15) in a boy with cri du chat syndrome. (3573006)
1987
32
Anesthetic considerations in cri du chat syndrome: a report of three cases. (4025870)
1985
33
Clinical heterogeneity in 80 home-reared children with cri du chat syndrome. (6834187)
1983
34
An avoidable recurrence of cri du chat syndrome in the next generation. (6416600)
1983
35
A tdic(5;15)(p31;p11) chromosome showing variation for constriction in the centromeric regions in a patient with the cri du chat syndrome. (456039)
1979
36
Ocular findings in a newborn with cri du chat syndrome. (418724)
1978
37
The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. (365706)
1978
38
Cri-du-chat syndrome in a child with a 5/15 translocation and interstitial centromeric heterochromatin. (83210)
1978
39
Translocation Y/5 resulting in Cri du Chat syndrome. (589854)
1977
40
Dermatoglyphics in Cri du Chat syndrome. (837572)
1977
41
The larynx in the cri du chat syndrome. (925494)
1977
42
Case study: a premature baby with cri-du-chat syndrome. (1047182)
1976
43
Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome. (1002156)
1976
44
Ocular abnormalities in the cri du chat syndrome. (4624375)
1972
45
An autoradiographic study of the chromosomes in the cri du chat syndrome. (5291170)
1971
46
Long arm measurements of chromosomes 4 and 5 with special reference to the cri du chat syndrome. (5822325)
1969
47
Combination of Goldenhar's syndrome with the Cri-Du-Chat syndrome. (4974461)
1968
48
Enlarged B-group chromosome (4-5). Association with the cri du chat syndrome. (6019447)
1967
49
Alternative DNA replication patterns associated with long arm length of chromosomes 4 and 5 in the cri du chat syndrome. (5921496)
1966
50
The cri du chat syndrome. (5862044)
1965

Variations for Cri-Du-Chat Syndrome

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Expression for genes affiliated with Cri-Du-Chat Syndrome

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Search GEO for disease gene expression data for Cri-Du-Chat Syndrome.

Pathways for genes affiliated with Cri-Du-Chat Syndrome

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GO Terms for genes affiliated with Cri-Du-Chat Syndrome

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Sources for Cri-Du-Chat Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet