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Cri-du-chat syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Cri-du-chat syndrome

MONDO:0007404

Also known as:5p deletion syndrome5p partial monosomy syndromeCat-Cry syndrome

Find Clinical TrialsTrials

Overview

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

GeneticsSporadic (not inherited)

OnsetJUVENILE, NEONATAL

Clinical Trials2 registered · 2 recruiting

Patient Orgs2 organizations · 5P-Society, Cri Du Chat Syndrome Support Group

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Epicanthus, Round face, Microcephaly, and Cat cry and others; and common findings: Hypertelorism, Downslanted palpebral fissures, High palate, and Sideways curvature of the spine (scoliosis) and others. 81 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	9	Round face, Microcephaly, Orofacial cleft

Diagnosis

Biomarker and diagnostic research for Cri-du-chat syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 12 very common features, 8 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

32 publications have been identified in PubMed for Cri-du-chat syndrome. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (28%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Patient case studies	12	38%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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5P-SocietyPrimary Focus

USWebsite ↗

Cri Du Chat Syndrome Support GroupPrimary Focus

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:123450

Orphanet

European rare disease database

Orphanet:281

GARD

Genetic and Rare Diseases Info Center

GARD:6213

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with 5P-Society and other patient organizations for support?

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Kisho

Cri-du-chat syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Cri-du-chat syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications