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familial monosomy 7 syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial monosomy 7 syndrome

MONDO:0044645

Also known as:monosomy 7 myelodysplasia and leukaemia syndromemonosomy 7 myelodysplasia and leukemia syndrome

Overview

A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.

ResearchLimited published research (3 articles)

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

MIRAGE syndrome is a rare disorder characterized by six core features: myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. To date, no consensus clinical diagnostic criteria for MIRAGE syndrome are available. In this review, a diagnosis of MIRAGE syndrome is defined as: • 46,XY individuals with four or more of the core features; or • 46,XX individuals with three or more of the core features. Using these diagnostic criteria, 44 individuals with features of MIRAGE syndrome and a pathogenic variant in SAMD9 have been identified to date [, , , , , , , , , , , , , , , , , , ]. The following description of the phenotypic features associated with MIRAGE syndrome is based on these reports. Table 2. MIRAGE Syndrome: Frequency of Select Features

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

Formal diagnostic criteria for MIRAGE syndrome have not been established.

Suggestive Findings

MIRAGE syndrome should be suspected in individuals with the following clinical, laboratory, and radiographic features.

Clinical features

Source: GeneReviews — "MIRAGE Syndrome"

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 familial monosomy 7 syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with MIRAGE syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with MIRAGE Syndrome

Prognosis

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

GeneReviews

Surveillance Guidelines

No formal surveillance guidelines are available. The recommendations in are based on the authors' personal experience. Table 6. Recommended Surveillance for Individuals with MIRAGE Syndrome

System/Concern

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 familial monosomy 7 syndrome.

3 publications have been identified in PubMed for familial monosomy 7 syndrome. Research spans Review / Meta-Analysis (33%), Clinical Trial Publication (33%), and Basic Science / Preclinical (33%).

Recent Publications

Fernandez-Orth J (2025). [PMID: 40138552](https://pubmed.ncbi.nlm.nih.gov/40138552/). *Blood advances*. [Basic Science / Preclinical]
Sahoo SS (2025). [PMID: 39475954](https://pubmed.ncbi.nlm.nih.gov/39475954/). *Blood*. [Review / Meta-Analysis]
Ren Y (2024). [PMID: 38316642](https://pubmed.ncbi.nlm.nih.gov/38316642/). *Annals of hematology*. [Clinical Trial Publication]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:23 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:495930

GARD

Genetic and Rare Diseases Info Center

GARD:20827

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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Feature	#ofPersonsw/Feature	Comment
Myelodysplasia	37/44	Some assoc w/monosomy 7 or del(7q)
Recurrent infection	40/44	—
Restriction of growth	43/44	—
Adrenal hypoplasia	34/44	—
Atypical external genitalia in 46,XY individuals	33/34	Hypospadias, microphallus, bifid shawl scrotum, ambiguous genitalia, or complete female genitalia
Gastrointestinal complications	36/44	Myelodysplasia and bone marrow failure. Age of onset of hematologic abnormalities is variable.

Differential Diagnosis

Table 3. Genes of Interest in the Differential Diagnosis of MIRAGE Syndrome

Gene	DiffDx Disorder	MOI	Features of MIRAGE Syndrome
AAAS	Triple A syndrome (OMIM 231550)	AR	Primary adrenal insufficiency, achalasia, alacrima
IMAGe syndrome	AD1	IUGR, adrenal hypoplasia, genital anomalies	Hematologic abnormalities, recurrent infections, diarrhea
GATA2	GATA2 deficiency2,3	AD	Cytopenias, MDS w/monosomy 7, immunodeficiency, infections, genital anomalies
POLE	IMAGe-I (OMIM 618336)	AR	IUGR, adrenal hypoplasia, genital anomalies, immunodeficiency
SAMD9L	SAMD9L ataxia-pancytopenia syndrome3	AD	Cytopenias, MDS w/monosomy 7, immunodeficiency, infections

Source: GeneReviews — "MIRAGE Syndrome"

Kisho

familial monosomy 7 syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

familial monosomy 7 syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials