Synonyms: Distal trisomy 13q | Telomeric duplication 13q | Trisomy 13qter
Distal trisomy 13q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 13 with variable phenotype principally characterized by intellectual disability psychomotor delay craniofacial dysmorphism (incl. microcephaly bushy eyebrows long curled eyelashes hypotelorism low-set ears prominent nasal bridge long philtrum high palate thin upper lip) short neck polydactyly and hemangiomas. Cardiac urogenital and neural tube defects as well as umbilical and inguinal hernias seizures and hypotonia 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 October 2024
Newly diagnosed with
Distal duplication 13q?
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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.
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Clinical Trials
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