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immunodeficiency-centromeric instability-facial anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency-centromeric instability-facial anomalies syndrome

MONDO:0000133

Also known as:immunodeficiency-centromeric instability-facial anomaliesCIIDICF syndrome

Overview

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness involving the face, shoulder girdle, upper arm, lower leg (peroneal muscles), and hip girdle in later stages . Asymmetry of facial, limb, and shoulder weakness is common . Typically, individuals with FSHD become symptomatic in their teens, but age of onset is variable . Earlier onset is associated with more progression. Individuals with severe infantile FSHD have muscle weakness at birth. In contrast, some individuals remain asymptomatic throughout their lives. Progression is usually slow; however, many affected individuals describe a stuttering course with periods of disease inactivity followed by periods of rapid deterioration. Eventually 20% of affected individuals require a wheelchair.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Evidence-based guidelines for diagnosis of facioscapulohumeral muscular dystrophy (FSHD) are available .

Suggestive Findings

FSHD should be suspected in individuals with the following:

Weakness that predominantly involves the facial, scapular stabilizer, and/or foot dorsiflexor muscles without associated ocular or bulbar muscle weakness. Weakness is often asymmetric.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for immunodeficiency-centromeric instability-facial anomalies syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Clinical practice guidelines for facioscapulohumeral muscular dystrophy (FSHD) have been published .

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with FSHD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. Facioscapulohumeral Muscular Dystrophy: Recommended Surveillance

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for immunodeficiency-centromeric instability-facial anomalies syndrome.

27 publications have been identified in PubMed for immunodeficiency-centromeric instability-facial anomalies syndrome. Research spans Basic Science / Preclinical (48%), Case Report / Case Series (26%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Laboratory research	13	48%

Data assembled from 4 of 12 sources · Last updated Oct 4, 2026, 12:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2268

GARD

Genetic and Rare Diseases Info Center

GARD:2945

Questions for Your Care Team

→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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GeneReviews

Differential Diagnosis

Genetic disorders that are similar clinically to facioscapulohumeral muscular dystrophy (FSHD) are listed in . Table 3. Genetic Disorders of Interest in the Differential Diagnosis of Facioscapulohumeral Muscular Dystrophy

Gene(s)	Disorder	MOI
35 genes incl:ANO5CAPN3DYSF	Limb-girdle muscular dystrophy (OMIM PS603511 PS253600)	ADAR
350 genes1	Mitochondrial myopathies (See Primary Mitochondrial Disorders Overview.)	ADARXLMT BAG3 CRYAB DES FLNC HSPB8 KY LDB3 MYL2 MYOT PYROXD1 SVIL TTN
UNC45B	Myofibrillar myopathy (OMIM PS601419)	ADAR
CNBP	Myotonic dystrophy type 2 (proximal myotonic myopathy [PROMM])	AD DMPK
GAA	Late-onset Pompe Disease	AR
GNE	GNE myopathy (inclusion body myopathy type 2)	AR AD = autosomal dominant; AR = autosomal recessive; FSHD = facioscapulohumeral muscular dystrophy; MOI = mode of inheritance; MT = mitochondrial; XL = X-linked 1.

Source: GeneReviews — "Facioscapulohumeral Muscular Dystrophy"

Kisho

immunodeficiency-centromeric instability-facial anomalies syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Supportive Findings

Differential Diagnosis

Musculoskeletal

Neurodevelopmental

Respiratory/Sleep

Ophthalmologic

Audiologic

Genetic counseling

Therapies Under Investigation

Clinical Trials

Recent Publications

immunodeficiency-centromeric instability-facial anomalies syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Supportive Findings

Differential Diagnosis

Musculoskeletal

Neurodevelopmental

Respiratory/Sleep

Ophthalmologic

Audiologic

Genetic counseling

Therapies Under Investigation

Clinical Trials

Recent Publications