Synonyms: Cri du chat syndrome | Deletion 5p
A rare developmental defect during embryogenesis resulting from partial or total deletion of the short arm of chromosome 5 classically characterized by a high-pitched monotone cat-like cry (cri du chat) present since birth associated with varying degrees of intellectual disability developmental delay microcephaly and facial dysmorphism.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
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Women Viva Foundation is a Non- Governmental Organization Registered in Tanzania under Ministry of Community Development, Gender, Women and Special Group with Registration number 00NGO/R/3419 works to increase opportunities and build the protective and productive assets of vulnerable children, youth and adults from socio-economically disadvantaged households in North Western Tanzania. With a stron
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.