Clue 1: Orient yourself
Which cards describe anatomy, cause, and care?
Use the labels and the picture's left-to-right, near-to-far, or before-and-after order. Name only what you can point to.
The question
Which cards describe anatomy, cause, and care?
Why it matters: Cleft care connects diagnosis, feeding, speech, hearing, and family support. A weak classification can send a team toward the wrong problem or make an important need easy to miss. Today you practice the professional reasoning behind that work: Mateo's record supports an isolated, nonsyndromic cleft lip and palate with multifactorial risk and lifelong coordinated care.
On your WebXam
Synthesizing an evidence board and a recurrence-risk number to reach the diagnosis
For life
One result can have many causes; the outcome alone never tells you which.
Principle: Many roads, one ending
Five principles we return to
Having it is not using it
Same instructions, different switches
Same look, different cause
Change one thing and watch
Boss or doorman?
Decides the result or only allows it
Held down, not gone
Remove the brake and it returns
Many roads, one ending
One result can begin many ways
Try the everyday version first
A case conference weighs the whole evidence board
An evidence board keeps observations, explanations, and unanswered questions separate. A team can update its best account when a new clue supports or weakens one part.
Do not jump to the biology yet. Treat the picture as a small system. Track its parts, follow one change at a time, and keep more than one explanation open until the picture supplies a way to separate them.
Clue 2: Trace one change
Which missing card would change the conclusion?
Follow one object, stage, or path. Point to the first place where the situation changes instead of jumping to the ending.
Clue 3: Keep the cause open
How do claim limits protect the final decision?
List more than one explanation that still fits. Name the extra observation that would help you separate those possibilities.
Now inspect the illustration
Work from the visible evidence. A useful answer names the part of the picture that supports it and leaves unknown causes open.
- 1Which cards describe anatomy, cause, and care?
- 2Which missing card would change the conclusion?
- 3How do claim limits protect the final decision?
Tier 1 check
Finish with the everyday model
Use the everyday picture to answer today's question in plain words: Which cards describe anatomy, cause, and care?
You can complete today's required check without opening the technical details below.
Ready for the real names? Optional tier 2
Technical rules and limits
Rule 1: Use the full evidence pattern, not one striking clue.
Rule 2: Separate description, classification, cause model, and care plan.
Rule 3: State what would make the conclusion change.
Where the analogy stops: A medical synthesis is not a courtroom verdict. The analogy models evidence organization and claim limits.
Carry the previous idea forward
A cleft team works when specialists share one plan, one record, and clear ownership across time.
Today's technical takeaway
Mateo's record supports an isolated, nonsyndromic cleft lip and palate with multifactorial risk and lifelong coordinated care.
Now map the same rules onto biology
Build Mateo's final clinical synthesis
Observation cards
Stable case evidence from all 20 lessons
Claim columns
Anatomic diagnosis, isolated-versus-syndromic classification, cause model, care plan
Revision trigger
A new family-history, developmental, or multi-system finding
The final diagnosis is a bounded synthesis. It stays open to revision if new evidence appears.
Mateo's case file: evidence supplied in this lesson
D20-E1
The anatomy is a complete unilateral left cleft lip and palate.
Why it matters: The structural diagnosis is specific and stable.
D20-E2
Repeated exam, family history, and follow-up show no consistent additional syndrome pattern.
Why it matters: The record supports an isolated, nonsyndromic classification at this time.
D20-E3
No single proven cause is identified, and research supports many contributing gene and environment influences.
Why it matters: A multifactorial risk model fits the evidence.
D20-E4
Mateo needs staged feeding, surgical, speech, hearing, dental, growth, psychosocial, and coordination follow-up.
Why it matters: The diagnosis includes a longitudinal care plan, not only a label.
Make the clinical decision
You are presenting Mateo at the five-domain grand rounds.
The panel asks for one complete diagnosis statement and one condition that would make you reopen it.
AIsolated nonsyndromic complete unilateral left cleft lip and palate, likely multifactorial, with staged team care
BA cleft caused by one specific exposure
CA confirmed syndrome despite no matching pattern
Choose the synthesis, cite at least three evidence IDs, and name one new finding that would require revision.
Evidence required
D20-E1 + D20-E2 + D20-E3 + D20-E4 Claim ceiling
You may state the best current synthesis. You may not claim certainty about one causal variant or exposure.Go deeper Optional tier 3
Everything required for today is above. Open these only if you want the explainer, source trail, or download files.
The everyday model and Tier 1 check are the complete required path for this lesson.
Use these checks to keep your place. They are not turned in through the portal.
Check off as you finish
- Worked through the everyday picture and answered its three questions.
- Completed the Tier 1 check in plain words.
Turn in: Disease lesson 20: Mateo's Complete Clinical Story (and His Diagnosis)
Go to Schoology to turn this in.
Submit one PDF. Put your first and last name in the document header. Name the file: FirstName LastName - Assignment Title - YYYY-MM-DD.pdf.
Open Schoology PDF upload helpIf you cannot get in, see Mr. Mendoza. Do not skip the work.
Optional legacy technical materials Open only if you want the original notes, vocabulary, artifact, and CER work
Before this page, you should know
- Optimal care is delivered by a cleft/craniofacial team spanning dental specialties (orthodontics, oral/maxillofacial surgery, pediatric dentistry, prosthodontics), medical specialties (plastic surgery, ENT, genetics, pediatrics, psychiatry), and allied health (audiology, speech-language pathology, nursing, psychology, social work).
- The reviews state that coordination of these specialties over years is what drives good functional and esthetic outcomes, not the specialists alone.
If not, review
Today's new idea is only
The evidence from twenty lessons converges on one diagnosis: isolated, lip and , multifactorial, managed over a lifetime.
Goal: Students will synthesize the evidence gathered across all twenty lessons to reach and justify Mateo's diagnosis (isolated lip and , multifactorial, managed over a lifetime) and assemble his complete clinical story.
Know by the end
- Mateo's evidence board argues against a syndrome: a complete left CL/P with no other anomalies, no lower-, a negative and , unaffected parents with no clean dominant pattern.
- His profile fits the common population pattern: CL/P is the most common craniofacial birth defect (about 1 in 700), more common in males, usually left-sided when , and causes trace to many small genetic and environmental contributors.
- for unaffected parents with one affected child is intermediate, about 2 to 5 percent (the data tables give about 4.4 percent for CLP in this family situation), not the 50 percent of a dominant single gene.
- Mateo's diagnosis is isolated, lip and with , reached partly as a , and it is a lifelong condition managed by the same multidisciplinary team and 18-year plan.
1
The converging diagnosis
Model start: After twenty lessons, the evidence converges on isolated, lip and .
- Mateo has an ______ (isolated): the cleft is his only anomaly, with no associated malformation pattern.
- Because it is not part of a broader syndrome, it is called ______ (nonsyndromic).
2
Why a diagnosis of exclusion fits
- The team actively looked for syndromes (Van der Woude , 22q11.2, Stickler, Pierre Robin) and found ______ of their features, and the yield for isolated CL/P is very low.
- The absence of those features plus the positive fit to the common population pattern is what justifies the call.
3
Multifactorial and lifelong
- The inheritance is ______ (multifactorial): many small-effect variants plus environment, with the appearing when total liability crosses a threshold.
- is intermediate, about ______ to ______ percent for unaffected parents with one affected child, and the condition is managed over a lifetime by the team and 18-year plan.
Everything you need for today is on this page. These links are optional.
What to read
Read the short plain-language explanation written for this lesson. Plain-language explainer for this lesson
Why this source matters
This explanation gives you the background for today's idea without making you decode a research paper: The evidence from twenty lessons converges on one diagnosis: isolated, lip and , multifactorial, managed over a lifetime.
Words to unlock first
Reading moves
- Skim the title and abstract first to get the gist.
- Circle the one sentence that states the main claim.
- Box the evidence the authors give for that claim.
- Mark one sentence that confuses you, and move on.
Stop point
Stop after the final 'Use it now' section. The research citations are available separately for advanced readers.
Your output
Write one claim-evidence sentence: state the main idea, then name the example or evidence that supports it.
Where this fits
Tested on (Ohio WebXam)
Genetics of Disease · 072130
PLTW lesson
MI · Disease domain · Medical Interventions (MI), clinical reasoning and diagnosis
WebXam domain
Molecular and Genetic Technology
Evidence to produce
As the team, present Mateo's case-conference summary to his family in one paragraph: state his diagnosis in plain language, give the two strongest reasons the team is confident it is isolated and not a syndrome, give the recurrence-risk number for future children, and end with one sentence about what 'managed over a lifetime' means for him. This is your Domain Report in miniature.
Lab / skill
Clinical backbone (cleft team) · Clinical backbone (cleft team)
Everything required for today's decision is already in the case file and plain-language explainer. The links below are original papers and database records for teachers and advanced readers, not assigned student reading.
- American Cleft Palate Craniofacial Association. 2024 Parameters of Care.
- Dixon MJ, et al. 2011. Cleft lip and palate: genetic and environmental influences. Nat Rev Genet. [PMID:21331089]
- Vyas T, et al. 2020. Cleft of lip and palate: A review. J Family Med Prim Care. [PMID:32984097]
- Yan S, et al. 2024. Prenatal CL/P ultrasound abnormalities and copy number variants. Ital J Pediatr. [PMID:39169438]
- Askarian S, et al. 2022. Genetic factors in cleft lip-cleft palate and clinical utility. Oral Maxillofac Surg. [PMID:35426585]
- Claim: Mateo has ____ (isolated, nonsyndromic) lip and with .
- Evidence: At least three clues: no other anomalies, no ____ pits, low yield, a fit to the common 1-in-700 pattern, and a of about ____ to ____ percent.
- Reasoning: Ruling out syndromes plus the intermediate justifies 'isolated and multifactorial' over 'syndromic' because ____.
How this is graded (rubric)
For: As the team, present Mateo's case-conference summary to his family in one paragraph: state his diagnosis in plain language, give the two strongest reasons the team is confident it is isolated and not a syndrome, give the recurrence-risk number for future children, and end with one sentence about what 'managed over a lifetime' means for him. This is your Domain Report in miniature.
| Criterion | Proficient | Developing | Beginning |
|---|---|---|---|
| Complete | Every required part of the artifact is present and filled in. | Most parts are present, but one is missing or left blank. | Several parts are missing. |
| Accurate | The science and data are correct and match the evidence. | Mostly correct, with a small factual slip. | Key science or data is wrong. |
| Scientific reasoning (CER) | States a claim, backs it with specific evidence, and explains the reasoning. | Has a claim and evidence, but the reasoning is thin or missing. | Gives an answer with no evidence or reasoning. |
| Professional communication | Clear, organized, and labeled the way a clinician or scientist would write it. | Readable but disorganized or missing labels. | Hard to follow. |
| Submitted | Turned in through the route named under Submit here and confirmed. | Turned in, but in the wrong place or unconfirmed. | Not turned in. |
How the model answer scores against this rubric
- CompleteProficient: Nothing is left blank: the model fills every part of "As the team, present Mateo's case-conference summary to his family in one paragraph: state his diagnosis in plain language, give the two strongest reasons the team is confident it is isolated and not a syndrome, give the recurrence-risk number for future children, and end with one sentence about what 'managed over a lifetime' means for him. This is your Domain Report in miniature.".
- AccurateProficient: Every number and claim matches the case evidence.
- Scientific reasoning (CER)Proficient: It names a claim, cites the specific evidence, and explains the reasoning, not just the answer.
- Professional communicationProficient: It is organized and labeled like a real chart note.
- SubmittedProficient: It would be attached to your class form or handed in, and confirmed.
What's next: We answered the question we have chased since day one: Mateo has isolated, lip and , multifactorial, managed over a lifetime. But Mateo is not only the disease team's patient. The genetic, developmental, anatomical, and experimental teams have studied the same patient from their own angles. Five lenses, one Mateo, one diagnosis: bring your Disease to the conference and see how your answer matches theirs.