MCID: CRD002
MIFTS: 58

Cri-Du-Chat Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Cri-Du-Chat Syndrome

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Genetics Home Reference:22 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.

MalaCards based summary: Cri-Du-Chat Syndrome, also known as monosomy 5p, is related to cataract and hydrocephalus, and has symptoms including microcephaly, epicanthus and round face. An important gene associated with Cri-Du-Chat Syndrome is CTNND2 (catenin (cadherin-associated protein), delta 2), and among its related pathways are Parkin-Ubiquitin Proteasomal System pathway and Parkinsons Disease Pathway. Affiliated tissues include eye, heart and bone.

NIH Rare Diseases:42 Cri du chat syndrome, also known as 5p- (5p minus) syndrome or cat cry syndrome, is a genetic condition that is caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5. 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, low birth weight, weak muscle tone in infancy, and distinctive facial features. while cri du chat syndrome is a genetic condition, most cases are not inherited. last updated: 4/13/2010

OMIM:46 Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with... (123450) more...

Wikipedia:64 Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p? (said minus) syndrome or... more...

Aliases & Classifications for Cri-Du-Chat Syndrome

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Sources:
9Disease Ontology, 64Wikipedia, 42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 48Orphanet, 46OMIM, 61UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 28ICD9CM, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet, 26ICD10
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Cri-Du-Chat Syndrome, Aliases & Descriptions:

Name: Cri-Du-Chat Syndrome 9 22 11 61
Monosomy 5p 42 22 48 46 61
5p Deletion Syndrome 9 64 42 22
Chromosome 5p Deletion Syndrome 9 42 61
Cri Du Chat Syndrome 42 21 48
Cat Cry Syndrome 64 42 22
5p- Syndrome 64 42 22
Chromosome 5 Short Arm Deletion Syndrome 9 61
5p Partial Monosomy Syndrome 9 61
Chromosome 5p- Syndrome 42 22
 
Partial Monosomy 5p 42 23
5p Minus Syndrome 42 61
Deletion 5p 42 48
Gene Deletion Abnormality 61
Chromosome 5, Trisomy 5p 61
Chromosome 5p Deletion 42
5p Monosomy 42
Cri Du Chat 64
5p Deletion 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
monosomy 5p:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology9 DOID:12580
OMIM46 123450
NCIt39 C34518
ICD9CM28 758.31
SNOMED-CT56 70173007
MESH via Orphanet35 D003410, C538482
ICD10 via Orphanet27 Q93.4
UMLS via Orphanet62 C0010314, C2931860
ICD1026 Q93.4

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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Clinical features from OMIM:

123450

Symptoms:

 48 (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 95)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 epicanthus hallmark (90%) HP:0000286
3 round face hallmark (90%) HP:0000311
4 micrognathia hallmark (90%) HP:0000347
5 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
6 wide nasal bridge hallmark (90%) HP:0000431
7 muscular hypotonia hallmark (90%) HP:0001252
8 abnormality of the voice hallmark (90%) HP:0001608
9 abnormality of chromosome segregation hallmark (90%) HP:0002916
10 cognitive impairment hallmark (90%) HP:0100543
11 abnormality of the palate typical (50%) HP:0000174
12 hypertelorism typical (50%) HP:0000316
13 short neck typical (50%) HP:0000470
14 downslanted palpebral fissures typical (50%) HP:0000494
15 intrauterine growth retardation typical (50%) HP:0001511
16 scoliosis typical (50%) HP:0002650
17 short palm typical (50%) HP:0004279
18 short stature typical (50%) HP:0004322
19 preauricular skin tag occasional (7.5%) HP:0000384
20 joint hypermobility occasional (7.5%) HP:0001382
21 malformation of the heart and great vessels occasional (7.5%) HP:0002564
22 recurrent fractures occasional (7.5%) HP:0002757
23 hernia of the abdominal wall occasional (7.5%) HP:0004299
24 abnormality of bone mineral density occasional (7.5%) HP:0004348
25 finger syndactyly occasional (7.5%) HP:0006101
26 microcephaly HP:0000252
27 intellectual disability HP:0001249
28 high pitched voice HP:0001620
29 inguinal hernia HP:0000023
30 cryptorchidism HP:0000028
31 hypospadias HP:0000047
32 abnormality of the kidney HP:0000077
33 thick lower lip vermilion HP:0000179
34 bifid uvula HP:0000193
35 oral cleft HP:0000202
36 high palate HP:0000218
37 facial grimacing HP:0000273
38 narrow face HP:0000275
39 long face HP:0000276
40 epicanthus HP:0000286
41 microretrognathia HP:0000308
42 round face HP:0000311
43 hypertelorism HP:0000316
44 short philtrum HP:0000322
45 facial asymmetry HP:0000324
46 prominent supraorbital ridges HP:0000336
47 hearing impairment HP:0000365
48 low-set ears HP:0000369
49 abnormality of the pinna HP:0000377
50 preauricular skin tag HP:0000384
51 stenosis of the external auditory canal HP:0000402
52 wide nasal bridge HP:0000431
53 short neck HP:0000470
54 strabismus HP:0000486
55 downslanted palpebral fissures HP:0000494
56 cataract HP:0000518
57 myopia HP:0000545
58 optic atrophy HP:0000648
59 autism HP:0000717
60 aggressive behavior HP:0000718
61 stereotypic behavior HP:0000733
62 short attention span HP:0000736
63 anxiety HP:0000739
64 self-mutilation HP:0000742
65 delayed speech and language development HP:0000750
66 hyperactivity HP:0000752
67 single transverse palmar crease HP:0000954
68 high axial triradius HP:0001042
69 syndactyly HP:0001159
70 hypertonia HP:0001276
71 neonatal hypotonia HP:0001319
72 growth delay HP:0001510
73 small for gestational age HP:0001518
74 diastasis recti HP:0001540
75 pes planus HP:0001763
76 metatarsus adductus HP:0001840
77 gastroesophageal reflux HP:0002020
78 premature graying of hair HP:0002216
79 difficulty walking HP:0002355
80 malformation of the heart and great vessels HP:0002564
81 scoliosis HP:0002650
82 downturned corners of mouth HP:0002714
83 functional respiratory abnormality HP:0002795
84 sporadic HP:0003745
85 recurrent infections in infancy and early childhood HP:0005437
86 feeding difficulties in infancy HP:0008872
87 anterior open-bite malocclusion HP:0009102
88 short metacarpal HP:0010049
89 echolalia HP:0010529
90 short metatarsal HP:0010743
91 hyperacusis HP:0010780
92 oppositional defiant disorder HP:0010865
93 conspicuously happy disposition HP:0100024
94 overfriendliness HP:0100025
95 cat cry HP:0200046

Drugs & Therapeutics for Cri-Du-Chat Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for 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 Syndrome21
2 5p Partial Monosomy Syndrome23

Anatomical Context for Cri-Du-Chat Syndrome

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

32
Eye, Heart, Bone, Brain, Lung, Testes

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 166)
idTitleAuthorsYear
1
Cri du Chat Syndrome:A case report from Ghana. (25236835)
2014
2
When Cri du chat syndrome meets Edwards syndrome. (25385231)
2014
3
Congenital vertical talus in Cri du Chat Syndrome: a case report. (23849392)
2013
4
Anesthetic experience of a patient with cri du chat syndrome. (24363858)
2013
5
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome. (22510527)
2012
6
Prenatal diagnosis of Cri du Chat syndrome: four cases report. (22746208)
2012
7
Association between fatigue and autistic symptoms in children with cri du chat syndrome. (21740256)
2011
8
Anesthetic management of a patient with Cri Du Chat syndrome. Case report. (21146059)
2010
9
Sign communication in Cri du chat syndrome. (20400089)
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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Expression patterns in normal tissues for genes affiliated with Cri-Du-Chat Syndrome

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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Pathways related to Cri-Du-Chat Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway59
9.0UBE2G2, UBE2G1
29.0UBE2G2, UBE2G1

Compounds 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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Biological processes related to Cri-Du-Chat Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein K48-linked ubiquitinationGO:0709369.0UBE2G2, UBE2G1

Molecular functions related to Cri-Du-Chat Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.6TRPV6, CTNND2, UBE2G2, MTMR12, ASAP2, ZFR

Products for genes affiliated with Cri-Du-Chat Syndrome

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Sources for Cri-Du-Chat Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet