Non-distal duplication 9q
Synonyms: Non-distal trisomy 9q | Non-telomeric trisomy 9q
Non-distal trisomy 9q is a rare chromosomal anomaly syndrome resulting from the partial trisomy of the long arm of chromosome 9 with a highly variable phenotype principally characterized by developmental delay short stature intellectual disability and craniofacial dysmorphism (e.g. microcephaly broad forehead low set ears epicanthus prominent nose and retrognathia). Cardiac ocular thyroid and esophagus defects as well as central nervous system and behavioral/psychiatric abnormalities have also been reported.
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
Non-distal duplication 9q?
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Advocacy Organizations
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
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