Cri-du-Chat Syndrome

Kattjam-syndromet

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