Joubert syndrome
Let an agent explain Joubert syndrome and related disorders in general terms, relay diagnosis, genetics, management and support information from clinical and patient organisation sources, and route personal questions to clinicians and genetic counsellors.
Bundle → Layer → Finding → Questions Filled
4 bundles · 8 layers · 8 findings · 16 questions
Understand What the syndrome is.
Definition
Definition and features.
Definition
Definition.
- What is Joubert syndrome, and what features define it? definition
- Is the user asking about their own or a child condition, which needs a clinician? boundary
Genetics
Genetics.
Genetics
Genetics.
- Which genes are involved, and how is the condition inherited? definition
- Which entry fits the specific gene or subtype? action
Clinical Diagnosis and management.
Diagnosis
Diagnosis.
Diagnosis
Diagnosis.
- How is the syndrome diagnosed, including imaging and genetic testing? provenance
- Is the presentation free of personal medical advice? boundary
Management
Management and surveillance.
Management
Management.
- What management and organ surveillance do guidelines describe, in general terms? provenance
- Which references are standard? provenance
Living Support.
Support
Support organisations.
Support
Support.
- What patient organisations and support exist? provenance
- Which entry fits rare disease support? action
Development
Development and education.
Development
Development.
- What do sources say about developmental outcomes and educational support, in general terms? provenance
- Which entry fits developmental disability? action
Research Research and history.
Research
Research.
Research
Research.
- What are current research directions, with sources? provenance
- Which sources are cited? provenance
History
History.
History
History.
- How was the syndrome first described by Joubert in 1969 and later defined? provenance
- Which entry fits ciliopathies? action
Classifiers Filled
- Family
- Thing Registry
- Category
- Activities and processes
- Entry kind
- thing
- Plane
- ACT
- Domain
- ACT.PRC
- Other names and narrower kinds
- Joubert syndrome with orofaciodigital defect, Joubert syndrome 35, Joubert syndrome 36, Joubert syndrome 37, COACH Syndrome, Joubert syndrome 1, Joubert syndrome 13, Joubert syndrome 15, Joubert syndrome 17, Joubert syndrome 20, Joubert syndrome 21, Joubert syndrome 23
What it is Filled
A rare ciliopathy, usually inherited in an autosomal recessive pattern but with rare X-linked and autosomal dominant forms, defined by a malformation of the cerebellum and brainstem seen on MRI as the molar tooth sign, causing low muscle tone, ataxia, abnormal breathing and eye movements in infancy and developmental delay; more than 35 genes are known, and related disorders add kidney, liver, eye or digital involvement, as in COACH syndrome and oral-facial-digital forms.
Why it exists Filled
Let an agent explain Joubert syndrome and related disorders in general terms, relay diagnosis, genetics, management and support information from clinical and patient organisation sources, and route personal questions to clinicians and genetic counsellors.
Distinguishing features Filled
- The molar tooth sign is a defining imaging feature.
- This ciliopathy is usually autosomal recessive, with rare X-linked and autosomal dominant forms.
- The syndrome is genetically heterogeneous.
- Related disorders include organ involvement.
What robots and AI may and may not do Filled
Must not
- Diagnose Joubert syndrome from symptoms or images.
- Advise on reproductive or genetic decisions.
- Disclose a child's diagnosis without the family's consent.
Only with a human decision
- Genetic testing and counselling decisions for families.
May
- Give general information on Joubert syndrome and point to specialist care and family support groups.
- Explain care needs, such as breathing monitoring in infants, as described by clinicians.
Moral aspects Filled
- Families face hard decisions and need accurate, compassionate information.
- Children with rare conditions deserve dignity and access to care.
Who is affected
- Affected children and adults
- Parents and siblings
Owners Filled
Steward
The person affected and their family with their clinicians.
Master systems
- Rare disease patient registries
Links to other meta-models Filled
parent
- Q15729064 - registry parent class
- Q203031 - registry parent class
- Q55345933 - registry parent class
related
- ciliopathy - the disease group
- autosomal recessive disorder - the inheritance
- Joubert syndrome and related disorders - the spectrum
- magnetic resonance imaging - the molar tooth sign
What else AI and robots need to interact with it Filled
Identity and identifiers required Filled
- Vercy registry: vr.tr.joubert-syndrome
- Wikidata: Q1101694 (https://www.wikidata.org/wiki/Q1101694)
- OMIM: 213300 and others by subtype
- ORPHA: 475
- ICD-10: Q04.3 other reduction deformities of brain
Direct properties not applicable Not applicable
- prevalence: about 1 in 80000-100000 births - per epidemiological sources
- known genes: over 35 count
Plane ACT: no invented physical properties.
Recognition optional Filled
- Ciliopathy with the molar tooth sign
- Hypotonia, ataxia, breathing and eye movement abnormalities
- Other ciliopathies and cerebellar disorders are distinguished by imaging and genetics
- Not a visible object; the molar tooth sign on brain MRI is the defining finding.
Capabilities and actions required Filled
- explain the condition and its features
- relay genetics and diagnosis principles
- relay management and support information
- route personal questions to clinicians
Hazards and failure modes required Filled
- Missed organ involvement without surveillance
- Delayed diagnosis
- Agents giving personal medical advice
Standards and interfaces required Filled
- Clinical management guidelines from rare disease consortia
- Rare disease and disability rights frameworks
- Genetic testing regulations
Context of use required Filled
- Not applicable; a genetic disorder.
- classic Joubert syndrome
- Joubert syndrome with retinal, renal, hepatic or oral-facial-digital involvement
- COACH syndrome
- numbered genetic subtypes
- Joubert syndrome and related disorders as a group
Sources Filled
- Wikidata item Q1101694: Joubert syndrome - identity and sense of the item
- Wikipedia: Joubert syndrome - general description of the item
Open questions
- Should each genetic subtype be a separate entry?
- How should guidelines and registries be linked?
- The registry entry has merged aliases naming numbered subtypes; should they be split off?
Machine files
Provenance
thing registry research (pass 2) · unreviewed
Built from: models/things/publications/thing-q1101694/spec.json