ferro-cerebro-cutaneous syndrome
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0019052
inborn errors of metabolism
is_a
MONDO:0024237
inherited neurodegenerative disorder
is_a
FCCS
exact
cerebro-cutaneous syndrome with iron overload
exact
SPBC3D6.07