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Task A-010 · Type A — Disease → phenotype

What are the distinctive clinical features of cri-du-chat syndrome?

Difficulty
easy
Rarity stratum
sparse
Evidence type
review consensus
MONDO ID
MONDO:0007404
Curator notes

None material — high-pitched cat-like cry, microcephaly, broad nasal bridge are consistently described.

Generation outcome

Abstained
No
Abstention correct
Yes
Gold in retrieved
2.00
Generation cost
$0.000645
Claims
9
Supported
9
Contradicted
0
Unverifiable
0

Gold documents (2)

  • Cri du Chat syndrome.
    pubmed:16953888retrieved ✓source
  • Cri-du-chat syndrome.
    pubmed:18437967retrieved ✓source

Retrieved documents (6)

  • Cri-Du-Chat Syndrome Associated With Meningomyelocele: A Case Report.
    pubmed:37908952
  • Cri-du-chat syndrome.
    pubmed:18437967gold
  • Cri du chat syndrome: a critical review.
    pubmed:20038906
  • Retinopathy in a Full-Term Infant with Cri-du-Chat Syndrome.
    pubmed:33517598
  • Cri du Chat syndrome.
    pubmed:16953888gold
  • Craniofacial characteristics in cri-du-chat syndrome.
    pubmed:21112524

Generated claims (9)

supportedconfidence 1.00

Cri-du-chat syndrome is a genetic disorder caused by a deletion on the short arm of chromosome 5.

pubmed:16953888pubmed:20038906pubmed:18437967pubmed:37908952pubmed:21112524pubmed:33517598
supportedconfidence 1.00

The main clinical feature is a high-pitched monochromatic cat-like cry that usually disappears in the first years of life.

pubmed:16953888pubmed:20038906
supportedconfidence 1.00

Microcephaly, broad nasal bridge, epicanthal folds, and micrognathia are typical physical features.

pubmed:16953888pubmed:20038906
supportedconfidence 1.00

Severe psychomotor and mental retardation are present in most cases.

pubmed:16953888pubmed:20038906pubmed:18437967
supportedconfidence 1.00

Congenital heart conditions, such as atrial septal defect and ventricular septal defect, are common.

pubmed:18437967
supportedconfidence 1.00

Orofacial anomalies include mandibular microretrognathia, high palate, variable malocclusion, and enamel hypoplasia.

pubmed:20038906
supportedconfidence 1.00

Craniofacial morphology shows skeletal class II malocclusion due to mandibular retrognathism.

pubmed:21112524
supportedconfidence 1.00

Ocular manifestations such as peripheral avascular retina and retinal hemorrhages have been documented.

pubmed:33517598
supportedconfidence 1.00

Developmental delays and other malformations, such as laryngomalacia and strabismus, are associated with the syndrome.

pubmed:18437967