Disease association ontology term - MONDO:0018346 - ferro-cerebro-cutaneous syndrome
Term summary
- ID
- MONDO:0018346
- Name
- ferro-cerebro-cutaneous syndrome
- Ontology or CV name
- Disease association
- Definition
- Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.
