Trisomy 13

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Synonyms: Patau syndrome

A rare chromosomal anomaly characterized by the presence of extra chromosome 13 material and manifesting with severe intellectual disability and multiple congenital anomalies including holoprosencephaly microcephaly microphthalmia scalp defect cleft lip/palate congenital heart defects and postaxial polydactyly. Neurological involvement may lead to seizures and hypotonia.

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 May 2024

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Trisomy 13?

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Advocacy Organizations

Tracking Rare Incidence Syndromes (TRIS) project

The Tracking Rare Incidence Syndromes (TRIS) project seeks to increase the knowledge base on rare incidence trisomy conditions, and to make this information available to families and interested educational, medical and therapeutic professionals.

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Clinical Trials

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