Oculocerebral hypopigmentation syndrome, Preus type
Oculocerebral hypopigmentation syndrome Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation growth retardation and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism cataract delayed neuropsychomotor development sensorineural hearing loss dolicocephaly high arched palate widely spaced teeth anemia and/or nystagmus.
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 September 2023.
Newly diagnosed with
Oculocerebral hypopigmentation syndrome, Preus type?
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Advocacy Organizations
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
COMBINEDBrain Inc
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.