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multiple congenital anomalies/dysmorphic syndrome-intellectual disability - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple congenital anomalies/dysmorphic syndrome-intellectual disability

MONDO:0015159

Also known as:MCA/MRmultiple congenital anomalies-intellectual disability with or without dysmorphism

Overview

OnsetCONGENITAL, NEONATAL, INFANTILE, CHILDHOOD, ANTENATAL

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.

Age of onset: at birth, newborn period, infancy, childhood, before birth.

GeneReviews

Clinical Guidance

AFF4-related CHOPS syndrome is characterized by coarse facial features/ cognitive impairment, heart defects, obesity, pulmonary involvement, and short stature/ skeletal abnormalities. To date, 14 individuals with AFF4-related CHOPS syndrome have been reported in the literature [, , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. AFF4-Related CHOPS 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

No consensus clinical diagnostic criteria for AFF4-related CHOPS syndrome have been published.

Suggestive Findings

AFF4-related CHOPS syndrome should be considered in probands with the following clinical and imaging findings and family history.

Clinical findings

Source: GeneReviews — "AFF4-Related CHOPS 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 multiple congenital anomalies/dysmorphic syndrome-intellectual disability. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for AFF4-related CHOPS syndrome have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with AFF4-related CHOPS syndrome, the evaluations summarized (if not performed as part of the evaluation that led to 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. AFF4-Related CHOPS Syndrome: 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 multiple congenital anomalies/dysmorphic syndrome-intellectual disability.

166 publications have been identified in PubMed for multiple congenital anomalies/dysmorphic syndrome-intellectual disability. Research spans Review / Meta-Analysis (32%), Epidemiology / Natural History (31%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Research summaries	53	32%

Data assembled from 4 of 12 sources · Last updated Oct 4, 2026, 6:17 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:102283

GARD

Genetic and Rare Diseases Info Center

GARD:19832

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	% of Persons w/Feature	Comment
Developmental delay	100% (14/14)	Mild to moderate
Characteristic craniofacial features	100% (14/14)	Microcephaly, large anterior fontanel, coarse facial features, synophrys, highly arched eyebrows, long eyelashes, proptosis, anteverted nares
Obesity	100% (14/14)	—
Short stature	92% (12/13)	—
Pulmonary/respiratory involvement	86% (12/14)	Chronic lung disease, tracheomalacia, laryngomalacia, subglottic stenosis, respiratory failure, apnea
Heart defects	79% (11/14)	Patent ductus arteriosus, ventricular septal defect
Ocular abnormalities	69% (9/13)	Cataracts, strabismus, astigmatism, myopia
Hearing loss	62% (8/13)	Sensorineural, conductive, or mixed
Genitourinary abnormalities	46% (6/13)	Horseshoe kidney, cryptorchidism, vesicoureteral reflux, kidney agenesis Developmental delay. All individuals with AFF4-related CHOPS syndrome have mild-to-moderate developmental delay.

Kisho

multiple congenital anomalies/dysmorphic syndrome-intellectual disability

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

Differential Diagnosis

ASXL1

Development

Psychiatric

Endocrine

Respiratory

Cardiovascular

Musculoskeletal

Therapies Under Investigation

Clinical Trials

Recent Publications

multiple congenital anomalies/dysmorphic syndrome-intellectual disability

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

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

ASXL1

Development

Psychiatric

Endocrine

Respiratory

Cardiovascular

Musculoskeletal

Therapies Under Investigation

Clinical Trials

Recent Publications