Down syndrome

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Synonyms: Trisomy 21

A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability muscular hypotonia and joint laxity often associated with a characteristic facial dysmorphism and various anomalies such as cardiac gastrointestinal neurosensorial or endocrine defects.

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 Data version June 2024

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Down syndrome?

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Advocacy Organizations


VISION To promote an inclusive & accessible society in which everybody including poor, marginalized and disadvantaged communities have to entertain equal opportunities and facilities MISSION To improve quality of life for people with Rare Diseases in Pakistan and promote their inherent right to be accepted and included as valued and equal members of their communities.

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Clinical Trials

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