cri du chat syndrome

GPTKB entity

Statements (27)
Predicate Object
gptkbp:instanceOf genetic disorder
rare disease
gptkbp:affects humans
gptkbp:alsoKnownAs gptkb:cat_cry_syndrome
5p minus syndrome
gptkbp:category genetic disorder
syndrome
gptkbp:causedBy deletion on chromosome 5p
gptkbp:chromosomalAbnormality partial deletion of short arm of chromosome 5
gptkbp:diagnosedBy genetic testing
gptkbp:firstDescribed gptkb:Jérôme_Lejeune
1963
gptkbp:frequency rare
https://www.w3.org/2000/01/rdf-schema#label cri du chat syndrome
gptkbp:ICD-10_code Q93.4
gptkbp:inheritance not usually inherited
gptkbp:namedAfter characteristic cat-like cry
gptkbp:OMIM 123450
gptkbp:prevalence 1 in 20,000 to 50,000 live births
gptkbp:symptom intellectual disability
microcephaly
distinctive facial features
low birth weight
high-pitched cry
gptkbp:treatment supportive care
gptkbp:bfsParent gptkb:cat_cry_syndrome
gptkbp:bfsLayer 7