8q24.3 microdeletion syndrome
Synonyms: Del(8)(q24.3) | Deletion 8q24.3 | Monosomy 8q24.3 | Verheij syndrome
A multiple congenital anomalies/dysmorphic – intellectual disability syndrome characterized by feeding problems growth retardation microcephaly developmental delay digital and vertebral anomalies joint laxity/dislocation cardiac and renal defects and dysmorphic facial features (including plagiocephaly prominent forehead bitemporal narrowing bilateral coloboma epicanthal folds malformations of the outer and middle ear wide nasal bridge anteverted nares prominent and bulbous nose tip long philtrum thin lips high and narrow palate micrognathia with prognathism/retrognathism full cheeks and short broad neck). Additional variable manifestations include obstructive apneas recurrent pneumonia and seizures.
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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8q24.3 microdeletion 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.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
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
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