5p13 microduplication syndrome
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 April 2024
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5p13 microduplication syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
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
For a list of clinical trials in this disease area, please click here.