16p11.2p12.2 microdeletion syndrome

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Synonyms: Del(16)(p11.2p12.2) | Monosomy 16p11.2p12.2

16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay 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 July 2024

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16p11.2p12.2 microdeletion syndrome?

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Advocacy Organizations

16p Genetic Syndrome Foundation

To provide up to date, practical and digestible information and guidance for families to promote children and individuals with 16p11.2 deletion to reach their full potential while celebrating the joys of individual variation.

Malaysian Rare Disorders Society

1. Provide support to individuals and families affected with Rare Disorders. 2. Develop strategies and programs to raise public and professional 3. Ensure Human Rights of access to healthcare education, job opportunities are upheld. 4. Participate in the formulation and implementation national policies in Malaysia related to person with rare disorders and rare disorders

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Clinical Trials

For a list of clinical trials in this disease area, please click here.