9q33.3q34.11 microdeletion syndrome
Synonyms: Del(9)(q33.3q34.11) | Deletion 9q33.3q34.11 | Monosomy 9q33.3q34.11
A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability developmental delay with pronounced speech delay short stature and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly prominent forehead round face arched eyebrows upslanting palpebral fissures strabismus short nose and thin upper lip. Other clinical findings include epilepsy ataxia unspecific brain MRI findings early-onset primary dystonia nail dysplasia and bone malformations in particular patellar abnormalities epistaxis and cutaneous-mucous telangiectasias.
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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9q33.3q34.11 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.
Genetic Epilepsy Team Australia
Collaboration of research and care
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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