Oculocerebral hypopigmentation syndrome, Cross type
Synonyms: Cross syndrome
Oculocerebral hypopigmentation syndrome Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation various ocular anomalies (e.g. corneal and lens opacity spastic ectropium and/or nystagmus) growth deficiency intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia hyperreflexia and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities Dandy-Walker malformations and/or bilateral inguinal hernia.
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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Oculocerebral hypopigmentation syndrome, Cross type?
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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
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.