Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Synonyms: 10p12p11 microdeletion syndrome | Del(10)(p11.21p12.31) | Deletion 10p11.21p12.31 | Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion | Monosomy 10p11.21p12.31
A rare genetic syndromic intellectual disability characterized by developmental delay hypotonia speech delay mild to moderate intellectual disability abnormal behavior (autistic aggressive hyperactive) and dysmorphic facial features including synophrys or thick eyebrows deep set eyes bulbous nasal tip and full cheeks. Congenital heart and brain anomalies visual and hearing impairment are also common.
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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Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion?
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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
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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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