Cohen syndrome
Enable an agent to recognise Cohen syndrome, assess the evidence for its diagnosis and manifestations, and identify appropriate evaluation and support needs.
Bundle → Layer → Finding → Questions Filled
6 bundles · 11 layers · 18 findings · 28 questions
Identity and diagnostic evidence Defines the registered condition and the evidence supporting its application.
Condition boundaries
Maintains the distinction between Cohen syndrome and overlapping labels.
Versioned disease identification
Record terminology mappings with release and mapping specificity. No consensus clinical diagnostic criteria are reported in the December 2025 GeneReviews revision. [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1482/)
- Which dated diagnostic reference supports use of the Cohen syndrome label? provenance
- Does each proposed ICD or SNOMED mapping identify this syndrome specifically or a broader category? boundary
Molecular resolution
Organises the evidence needed to interpret VPS13B testing.
Variant evidence completeness
Keep reported variants, uncertainty, phase and assay coverage visible without promoting incomplete evidence to confirmation.
- What classifications, dates and segregation evidence support the reported VPS13B variants? provenance
- If the result is unresolved, were copy-number changes and other assay limitations considered? action
Development and functional expression Represents developmental observations and their practical consequences.
Developmental course
Records milestones and longitudinal changes.
Developmental baseline and change
Separate delayed acquisition, stable limitations and reported loss of skills.
- At what ages were motor, communication and adaptive milestones reached, and how were they assessed? measurement
- Does any reported loss of skills warrant investigation beyond the existing syndrome attribution? action
Motor and communication function
Connects examination findings to everyday participation.
Individual support profile
Record hypotonia, joint mobility and communication observations separately from inferred capability.
- How do recorded muscle tone and joint findings affect walking, posture and self-care? measurement
- Which communication methods and assistance arrangements are effective for this individual? action
Ocular disease and access Separates optical measurements, retinal findings and usable vision.
Ocular trajectory
Preserves comparable ophthalmic observations over time.
Refractive and retinal evidence
Track refraction and retinal assessment as distinct evidence streams.
- How has measured refraction changed between dated examinations? measurement
- Which examination or investigation supports the recorded retinal finding? provenance
Functional vision
Represents the impact of ocular findings on daily activities.
Vision-related access needs
Link observed visual limitations to accessible communication and environments.
- What difficulties are observed with low-light navigation, near tasks and recognising visual information? measurement
- Which ophthalmology follow-up and low-vision adaptations are documented as needed? action
Neutrophils and infection context Organises blood-count evidence and associated clinical events.
Haematological pattern
Records repeated measurements and possible confounding influences.
Neutrophil trend
Retain absolute counts, timing and context rather than only a neutropenia flag.
- What are the absolute neutrophil counts across repeated samples and relevant reference intervals? measurement
- Could concurrent illness, medication or another condition contribute to the observed count? boundary
Clinical consequences
Links haematological observations to separately recorded symptoms and care plans.
Infection and oral event linkage
Record event burden and clinician-authored response plans without treating every event as syndrome-caused.
- Which infections or oral ulcers are documented, with dates, severity and contemporaneous counts? measurement
- What clinician-defined monitoring or escalation plan applies to new fever or infection symptoms? action
Growth, inheritance and population context Interprets longitudinal expression alongside familial and population evidence.
Age-dependent growth
Records feeding, anthropometry and body-distribution observations across life stages.
Growth transition evidence
Preserve serial measurements and feeding context instead of assigning a fixed body-habitus category.
- How do weight, height, head circumference and adiposity observations change with age? measurement
- What feeding, nutritional or metabolic assessment is indicated by the documented trajectory? action
Familial and population evidence
Separates family-specific inheritance assessment from population estimates.
Risk and ascertainment boundaries
Cohen syndrome follows autosomal recessive inheritance; family conclusions require family-specific evidence. [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1482/)
- Which relatives have molecularly documented carrier or affected status, and what remains untested? provenance
- For any prevalence estimate, what population, year, denominator and ascertainment method were used? provenance
Evidence and external alignment What the world already says about this thing, gathered so the model can be checked against it.
Reported evidence
Findings from the breadth pass, kept separate from the structural claims.
Check these first
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these check these first hold for the sense of Cohen syndrome this model covers, and on what evidence? provenance
Identifiers and schemes
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these identifiers and schemes hold for the sense of Cohen syndrome this model covers, and on what evidence? provenance
Standards and regulation
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these standards and regulation hold for the sense of Cohen syndrome this model covers, and on what evidence? provenance
Real-world use
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these real-world use hold for the sense of Cohen syndrome this model covers, and on what evidence? provenance
Typical measurements
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these typical measurements hold for the sense of Cohen syndrome this model covers, and on what evidence? provenance
Failure modes and hazards
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these failure modes and hazards hold for the sense of Cohen syndrome this model covers, and on what evidence? provenance
Regional variation
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these regional variation hold for the sense of Cohen syndrome this model covers, and on what evidence? provenance
Neighbouring kinds and how to tell them apart
Recalled without web access and unsourced; every item is a lead to verify.
- Which of these neighbouring kinds and how to tell them apart hold for the sense of Cohen syndrome this model covers, and on what evidence? provenance
Classifiers Filled
- Family
- Thing Registry
- Category
- Cross-cutting context
- Entry kind
- thing
- Plane
- XCT
- Domain
- XCT.STA
What it is Filled
Cohen syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in VPS13B, characterized by developmental delay and intellectual disability, hypotonia, characteristic facial features, progressive retinal dystrophy, and frequently neutropenia and truncal obesity.
In scope
- VPS13B-associated disease identity and diagnostic evidence
- Age-dependent developmental, ocular, haematological and growth manifestations
- Autosomal recessive inheritance and interpretation of familial evidence
- Condition-specific monitoring needs and functional consequences
- Versioned terminology mappings and limits of population evidence
Out of scope
- The patient's complete clinical record
- Laboratory procedures and general variant-classification standards
- Individual infection episodes and their treatment records
- Detailed ophthalmic procedures and rehabilitation service delivery
- Other syndromes sharing developmental delay, obesity or retinal disease
Why it exists Filled
Enable an agent to recognise Cohen syndrome, assess the evidence for its diagnosis and manifestations, and identify appropriate evaluation and support needs.
Distinguishing features Filled
- Suggestive manifestations together with biallelic pathogenic or likely pathogenic VPS13B variants support molecular diagnosis; record classification and phase evidence. [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1482/)
- Developmental impairment accompanied by progressive myopia and retinal dystrophy is more discriminating than developmental delay alone. [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1482/)
- Neutropenia adds diagnostic discrimination to the developmental and ocular pattern, but requires measured evidence. [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1482/)
- Early feeding and weight-gain difficulties followed by later truncal adiposity should be represented as a trajectory. [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1482/)
- Historical Cohen-like labels require reassessment rather than automatic equivalence with VPS13B-related disease. [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK1482/)
What robots and AI may and may not do Filled
Must not
- Diagnose the syndrome from a child's photo or facial features.
- Describe affected people in demeaning terms or focus on their appearance.
- Disclose a child's diagnosis or genetic results without the family's consent.
- Advise on reproductive choices for a specific family.
Only with a human decision
- Genetic testing of children or relatives.
- Treatment decisions, such as for low white cell counts.
May
- Explain Cohen syndrome in general terms from reputable medical sources.
- Help families find support groups and reliable information they ask for.
Moral aspects Filled
- People with intellectual disability have equal dignity and the right to be included.
- Facial-recognition-based diagnosis of children raises consent and privacy concerns.
Who is affected
- Affected people and their families
- Carers
- Carrier relatives
Owners Filled
Steward
Nobody owns the condition; families and clinicians answer for care.
Master systems
- Rare disease registries
Links to other meta-models Filled
parent
- Q55785288 - registry parent class
- Q55785866 - registry parent class
- Q55786310 - registry parent class
- Q55787695 - registry parent class
- Q55789206 - registry parent class
What else AI and robots need to interact with it Filled
Identity and identifiers required Filled
- Vercy registry: vr.tr.cohen-syndrome
- Wikidata: Q1107087 (https://www.wikidata.org/wiki/Q1107087)
Direct properties not applicable Not applicable
- Diagnostic evidence status: suspected; molecularly established; unresolved; alternative diagnosis supported
- VPS13B molecular evidence: variant reports with transcript, genome assembly, zygosity, phase, classification, laboratory and date
- Manifestation ascertainment: present; assessed absent; not assessed; uncertain; with age and assessment method
- Developmental and adaptive function: milestone ages in months; named instrument scores; communication and assistance needs
- Ocular status: refraction in dioptres; visual acuity with scale; retinal assessment with method and date
- Absolute neutrophil count: ×10^9/L, with collection date, reference interval and clinical context
- Growth trajectory: weight in kg; height and head circumference in cm; BMI in kg/m²; age-adjusted centiles or z-scores
- Familial relationship to molecular findings: proband; affected relative; confirmed carrier; untested relative; segregation unknown
Plane XCT: no invented physical properties.
Recognition not applicable Not applicable
Not applicable
Cohen syndrome cannot be identified visually because its observable features overlap with other disorders and require clinical and genetic assessment.
Capabilities and actions required Filled
- Compare recorded manifestations with the syndrome pattern and identify missing evaluations.
- Summarise whether molecular evidence supports diagnosis or remains unresolved.
- Track ocular, neutrophil and growth measurements against previous observations.
- Prepare condition-specific questions for genetics, ophthalmology and haematology review.
- Link functional limitations to communication, mobility and low-vision support needs.
- Audit diagnostic and coding assertions against dated sources.
Hazards and failure modes required Filled
- Low white cell counts raise the risk of infections.
- Progressive retinal damage leads to worsening sight.
Standards and interfaces required Filled
- International Classification of Diseases (ICD-11), World Health Organization.
Context of use required Filled
- Cohen syndrome is encountered in clinical genetics and developmental services when developmental differences occur alongside characteristic ocular, growth or blood findings.
- The diagnosis supports coordinated assessment of vision, development, muscle tone and neutropenia, together with family genetic counseling.
Sources Filled
- Wikidata item Q1107087: Cohen syndrome - identity and sense of the item
- Wikipedia: Cohen syndrome - general description of the item
Open questions
- Which current ICD-10 jurisdictional extension, ICD-11 release and SNOMED CT edition provide verified mappings, and how specific are those mappings?
- Which historical phenotype-based criteria remain useful when molecular testing is incomplete, and how were they validated across ages and populations?
- What population-based prevalence estimates exist beyond reported-case counts and founder-population series?
- Which surveillance intervals and escalation thresholds have sufficient Cohen syndrome-specific evidence to encode as defaults?
- How well are adult outcomes, genotype-phenotype relationships and atypical presentations characterised?
Machine files
Provenance
thing registry research (pass 2) · unreviewed
Built from: models/things/publications/thing-q1107087/spec.json