5p13 microduplication syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Dup(5)(p13) | Trisomy 5p13

A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay intellectual disability autistic behavior muscular hypotonia macrocephaly and facial dysmorphism (frontal bossing short palpebral fissures low set dysplastic ears short or shallow philtrum high arched or narrow palate micrognathia). Other associated clinical features include sleep disturbances seizures aplasia/hypoplasia of the corpus callosum skeletal abnormalities (large hands and feet long fingers and toes talipes).

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 June 2024

Newly diagnosed with
5p13 microduplication syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

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