Ferro-cerebro-cutaneous syndrome

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Ferro-cerebro-cutaneous syndrome

Synonyms: Cerebro-cutaneous syndrome with iron overload

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.

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 December 2023

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Advocacy Organizations


Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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