dysmelia
Let an agent explain dysmelia and its types in neutral clinical terms, relay causes, diagnosis and management from medical and genetic sources, describe support and adaptive approaches respectfully, and route families and individuals to specialist clinicians and support organisations.
Bundle → Layer → Finding → Questions Filled
4 bundles · 8 layers · 8 findings · 16 questions
Help Care and support first.
Diagnosis
Diagnosis and care.
Diagnosis
Diagnosis.
- Why do prenatal findings or a limb difference at birth need assessment by specialist teams in genetics, orthopaedics and rehabilitation? action
- Is the user asking about a specific pregnancy, child or themselves, which needs clinicians? boundary
Support
Support.
Support
Support.
- What support organisations and peer networks exist for people with limb differences? provenance
- Is the presentation respectful and person-first? boundary
Understand The conditions.
Types
Types.
Types
Types.
- What are amelia, meromelia, phocomelia, mesomelia, acromelia and split hand-foot malformation? definition
- Is the question about a congenital limb difference or an acquired amputation? boundary
Causes
Causes.
Causes
Causes.
- What genetic, teratogenic and vascular causes lead to dysmelia, in general terms? definition
- Which entry fits the specific cause? action
Care Management.
Management
Management.
Management
Management.
- How are limb differences managed with prosthetics, surgery, therapy and adaptive approaches, in general terms? provenance
- Which references are standard? provenance
Living
Living with limb difference.
Living
Living.
- How do people with limb differences describe their lives and needs, in their own words? provenance
- Which sources are cited? provenance
Context History and research.
History
History.
History
History.
- What was the thalidomide tragedy, and how did it change drug regulation, as historians describe? provenance
- Which entry fits thalidomide? action
Research
Research.
Research
Research.
- What research explores limb development genes and new prosthetics? provenance
- Which entry fits limb development? action
Classifiers Filled
- Family
- Thing Registry
- Category
- Cross-cutting context
- Entry kind
- thing
- Plane
- XCT
- Domain
- XCT.STA
- Other names and narrower kinds
- mesomelic dysplasia, Camera type, mesomelia, split hand-foot malformation, acromelia, acromicria, congenital lower extremity deformity, Hypodactylia, reduction defects of upper limb, meromelia, Rhizomelia, Reinhardt-Pfeiffer mesomelic dysplasia, Mesomelic dysplasia, Savarirayan type
What it is Filled
A group of congenital limb malformations in which limbs or parts of limbs are missing, shortened or malformed, including amelia with absent limbs, meromelia with partial absence, phocomelia with shortened proximal segments, mesomelia and mesomelic dysplasias affecting the middle segments, acromelia and acromicria affecting the hands and feet, and split hand-foot malformation, arising from genetic causes, teratogens such as thalidomide or vascular disruption during development; management involves multidisciplinary care, prosthetics and surgery.
Why it exists Filled
Let an agent explain dysmelia and its types in neutral clinical terms, relay causes, diagnosis and management from medical and genetic sources, describe support and adaptive approaches respectfully, and route families and individuals to specialist clinicians and support organisations.
Distinguishing features Filled
- Congenital origin
- Classified by segment
- Genetic, teratogenic or vascular causes
- Multidisciplinary care
What robots and AI may and may not do Filled
Must not
- Use stigmatizing language about people with limb differences.
- Diagnose a person or unborn child from images or descriptions.
- Publish images or details of identifiable people with limb differences without consent.
Only with a human decision
- Any advice that bears on prenatal or treatment decisions for a particular person.
May
- Explain the types and known causes of congenital limb malformations, citing medical sources.
- Point people to support organizations and specialist services.
Moral aspects Filled
- People with limb differences face stigma and barriers more than limits from the condition itself.
- Some causes, such as drug exposure in pregnancy, involved serious failures of medicine regulation.
Who is affected
- People with limb differences
- Parents and families
Owners Filled
Steward
Nobody owns the condition; each person's care is with their clinicians.
Master systems
- Congenital anomaly registers
Links to other meta-models Filled
parent
- Q2852249 - registry parent class
- Q5160441 - registry parent class
related
- congenital limb deformity - in registry terms
- congenital abnormality - in registry terms
- thalidomide - as a teratogen
- prosthesis - and surgery when appropriate
What else AI and robots need to interact with it Filled
Identity and identifiers required Filled
- Vercy registry: vr.tr.dysmelia
- Wikidata: Q1269288 (https://www.wikidata.org/wiki/Q1269288)
- ICD-11: LB98 reduction defects of limbs, related codes
- MeSH: D017880 limb deformities, congenital
Direct properties not applicable Not applicable
- limb reduction defects: about 1 in 2000 births - estimates
- thalidomide affected children: about 10000 count - late 1950s and early 1960s
Plane XCT: no invented physical properties.
Recognition optional Filled
- Congenital limb absence or malformation
- Amelia, meromelia, phocomelia, mesomelia, acromelia, acromicria, split hand-foot malformation, lower extremity deformities
- Acquired amputation is not congenital; skeletal dysplasias may affect the whole skeleton
- Not a visible object as a category; limb differences of many forms.
Capabilities and actions required Filled
- explain types and causes
- relay diagnosis and management
- describe support
- route to specialists
Hazards and failure modes required Filled
- Agents giving personal medical advice
- Stigmatising language
- Missing associated syndromes
Standards and interfaces required Filled
- Congenital anomaly surveillance registries
- Teratogen regulation including thalidomide controls
- Disability rights and prosthetic provision rules
Context of use required Filled
- Not applicable; a group of conditions.
- amelia and meromelia
- phocomelia
- mesomelia and mesomelic dysplasias such as the Camera type
- acromelia and acromicria
- split hand-foot malformation
- congenital lower extremity deformities such as fibular hemimelia
Sources Filled
- Wikidata item Q1269288: dysmelia - identity and sense of the item
- Wikipedia: Dysmelia - general description of the item
Open questions
- Should phocomelia and split hand-foot malformation be separate primary entries?
- How should medical and genetic sources be linked?
- The registry entry has merged aliases naming distinct conditions; should they be split off?
Machine files
Provenance
thing registry research (pass 2) · unreviewed
Built from: models/things/publications/thing-q1269288/spec.json