Monosomy 5p
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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Monosomy 5p?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
5p- Society
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
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.