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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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9q33.3q34.11 microdeletion syndrome?
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Genetic Epilepsy Team Australia
Collaboration of research and care
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
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
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