About Cri-du-Chat Syndrome
Cri-du-Chat syndrome is caused by partial deletion of the short arm of chromosome 5 (5p15), with the size and location of the deletion determining phenotype severity. The name refers to the characteristic high-pitched cat-like cry in infancy caused by laryngeal abnormalities. Core features include severe intellectual disability, delayed motor development, microcephaly, and distinctive facial features. Larger deletions affecting 5p15.2 cause more severe intellectual disability, while very distal deletions may cause milder disease.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Cri-du-Chat Syndrome trials.
Chromosomal microarray documenting 5p deletion size and region is required — deletion characteristics affect phenotype and trial stratification
Communication assessment using augmentative and alternative communication (AAC) tools is relevant for speech-language trials
Behavioral assessments (ABC-C, repetitive behavior scales) are standard baseline tools for behavioral intervention trials
Natural history studies are the primary research pathway — Cri-du-Chat Society maintains a registry for trial matching
Patient Resources
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