Coats plus syndrome
Synonyms: CRMCC | Cerebroretinal microangiopathy with calcifications and cysts
Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates intracranial calcification with leukoencephalopathy and brain cysts osteopenia with predisposition to fractures bone marrow suppression gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.
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 October 2023.
Newly diagnosed with
Coats plus syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
For a list of clinical trials in this disease area, please click here.