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ferro-cerebro-cutaneous syndrome (FCCS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ferro-cerebro-cutaneous syndrome

MONDO:0018346

Also known as:FCCScerebro-cutaneous syndrome with iron overload

Overview

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.

GeneticsX-linked · PIGA (chr X)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Seizure, Increased circulating iron concentration, Increased CSF glutamate concentration, and Axial hypotonia and others; and common findings: Hearing loss (hearing impairment), Shrinkage of the cerebellum (cerebellar atrophy), Flexion contracture, and Elevated circulating alkaline phosphatase concentration and others. 45 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13

Genetic Landscape

PIGA function has not been fully characterized.

Ferro-cerebro-cutaneous syndrome is associated with mutations in the PIGA gene on chromosome X.

Diagnosis

Genetic testing for PIGA is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features, 19 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301072

Orphanet

European rare disease database

Orphanet:397922

GARD

Genetic and Rare Diseases Info Center

GARD:21637

Questions for Your Care Team

→Should female family members consider carrier screening for PIGA?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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ferro-cerebro-cutaneous syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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