Svensk definition
Ett syndrom hos barn, kännetecknat av skrik som påminner om en katts jamande, hämmad tillväxt, mikrocefali, psykisk funktionsnedsättning, tetrapares, mikro- och retrognati, glossoptos, dubbelsidig epikantus, hypertelorism och små yttre könsdelar. Tillståndet orsakas av avsaknad av en bit av korta armen på kromosom 5 (segmentet 5p15.2-3). Syn. kromosom 5p-syndromet.
Engelsk definition
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-).
Svenska synonymer
Cri-du-chatsyndrom
Engelska synonymer
Cri du Chat Syndrome — Cri-du-Chat Syndromes — Syndrome, Cri-du-Chat — Syndromes, Cri-du-Chat — Chromosome 5p- Syndrome — 5p- Syndrome, Chromosome — 5p- Syndromes, Chromosome — Chromosome 5p- Syndromes — Syndrome, Chromosome 5p- — Syndromes, Chromosome 5p- — 5p Deletion Syndrome — 5p Deletion Syndromes — Deletion Syndrome, 5p — Deletion Syndromes, 5p — Syndrome, 5p Deletion — Syndromes, 5p Deletion — 5p Minus Syndrome — 5p Minus Syndromes — Minus Syndrome, 5p — Minus Syndromes, 5p — Syndrome, 5p Minus — Syndromes, 5p Minus — Deletion of Short Arm of Chromosome 5 Syndrome — 5p- Syndrome — 5p Syndrome — 5p- Syndromes — Syndrome, 5p- — Chromosome 5p Deletion Syndrome — Cat Cry Syndrome — Cat Cry Syndromes — Syndrome, Cat Cry — Syndromes, Cat Cry — Crying Cat Syndrome — Crying Cat Syndromes — Syndrome, Crying Cat — Syndromes, Crying Cat — Chromosome 5 Short Arm Deletion Syndrome