| umls-concept:C0010314 | skos:definition | MSH: An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).,CSP: infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, mental retardation, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia; caused by a deletion of the short arm of chromosome 5.,JABL: Deletion of the short arm of chromosome 5 characterized by a variable clinical picture consisting of severe mental deficiency, growth retardation, multiple abnormalities and a peculiar crying sound resembling that of a suffering kitten (hence the synonym crying cat syndrome or cri du chat syndrome), that disappears within weeks or months after birth.,NCI: A genetic syndrome resulting from a partial deletion on the | lld:umls |
