Clue 1: Orient yourself
Why are the checkpoints named?
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
Why are the checkpoints named?
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: A red-flag checklist turns a broad syndrome question into specific findings that can be checked.
On your WebXam
Matching a cleft syndrome to its defining red flag
For life
To find the cause, change one thing and watch what changes.
Principle: Same look, different cause
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
Airport screening uses named checks
Airport screening happens in steps. Each check looks for a certain kind of concern, and one flag leads to a closer check instead of proving what caused it.
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 checks are visual and which need a tool?
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
What would happen if the screener relied on a general feeling?
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.
- 1Why are the checkpoints named?
- 2Which checks are visual and which need a tool?
- 3What would happen if the screener relied on a general feeling?
Tier 1 check
Finish with the everyday model
Use the everyday picture to answer today's question in plain words: Why are the checkpoints named?
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: Break a broad risk into visible checks.
Rule 2: Match each concern to a specific sign.
Rule 3: A negative check narrows the list but does not erase all uncertainty.
Where the analogy stops: Patients are not security threats. The analogy only represents systematic screening.
Carry the previous idea forward
A cleft is syndromic only when a pattern of additional findings supports that claim.
Today's technical takeaway
A red-flag checklist turns a broad syndrome question into specific findings that can be checked.
Now map the same rules onto biology
Match named syndromes to named red flags
Passport check
Family history and lip-pit check
Bag scan
Heart, eye, jaw, and limb examination
Secondary screening
Targeted referral or test when a flag is present
A checklist protects against both missed clues and unsupported syndrome labels.
Mateo's case file: evidence supplied in this lesson
D04-E1
No lower-lip pits are seen.
Why it matters: A classic Van der Woude clue is absent.
D04-E2
Jaw size and breathing are normal.
Why it matters: The small-jaw and tongue-back pattern of Robin sequence is not present.
D04-E3
Heart exam, eye exam, and limb exam are unremarkable.
Why it matters: Several common syndromic red flags are not present on screening.
Make the clinical decision
You are the cleft team coordinator reviewing the red-flag matrix.
The team has time for one next step before the family leaves.
AComplete the structured family history and genetics examination
BAssign a named syndrome from the cleft alone
CStop all evaluation because the first exam is normal
Choose the next step and show how the red-flag evidence narrows, but does not close, the question.
Evidence required
D04-E1 + D04-E2 + D04-E3 Claim ceiling
You may say named red flags are absent on today's screen. You may not say every possible syndrome has been ruled out.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 4: The Short List: Ruling Out the Big Cleft Syndromes
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
- An is the only apparent anomaly; a is one feature of a broader pattern of findings.
- About 70% of CL/P cases are nonsyndromic and about 30% are syndromic; for only the syndromic share is higher, roughly 50%.
If not, review
Today's new idea is only
Ruling out a syndrome means checking specific red flags one by one, not forming a general impression.
Goal: Students will match each of four high-stakes syndromes (Van der Woude, 22q11.2 deletion, Stickler, ) to its defining red flag and apply the checklist to Mateo to show none of the red flags are present.
Know by the end
- is the most common (about 2% of all patients); its red flag is lower-, often inherited (autosomal dominant, about 50% recurrence).
- presents with or plus a heart defect, low calcium, and immune/thymus problems; it is life-threatening if missed.
- 's red flag is severe eye and ear findings: high myopia with retinal-detachment risk plus hearing loss.
- is plus plus with a wide ; it is a sequence, not a primary syndrome, and can signal Stickler or 22q11.2.
1
The four red flags
Model start: The geneticist runs a short list of high-yield syndromes, each with one signature red flag.
- Van der Woude, the most common , red flag = ______ in the lower lip, often inherited.
- 22q11.2 deletion, red flag = a heart defect with low ______ and immune/thymus problems, plus nasal speech.
2
The other two
- , red flag = high myopia (eyes) and ______ loss (ears).
- , red flag = ______ (small jaw) plus (tongue falls back) and .
3
Mateo against the list
- Mateo trips none of the red flags: no , no heart/calcium/immune findings, no eye/ear findings, normal jaw and airway.
- That is reassuring, but it is still an eyeball check, and a microdeletion leaves no visible mark, so a lab test may still be needed.
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: Ruling out a syndrome means checking specific red flags one by one, not forming a general impression.
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), Unit 2 diagnosis and differential diagnosis
WebXam domain
Molecular and Genetic Technology
Evidence to produce
Write Mateo's differential note: for each of the four syndromes, state the red flag and write 'present' or 'absent' with the supporting finding, then give a one-line bottom line plus a sentence on what still needs confirming.
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.
- Askarian S, et al. 2022. Genetic factors in cleft lip-cleft palate and clinical utility. Oral Maxillofac Surg. [PMID:35426585]
- Dean KM, Leeper LK. 2020. Management of submucous cleft palate. Curr Opin Otolaryngol Head Neck Surg. [PMID:33105231]
- Hsieh ST, Woo AS. 2019. Pierre Robin Sequence. Clin Plast Surg. [PMID:30851756]
- Claim: On the four-syndrome checklist, Mateo's red flags are all ____.
- Evidence: He has no ____ (Van der Woude), no ____ findings (22q11.2), no ____ findings (Stickler), and a normal ____ and airway (Pierre Robin).
- Reasoning: Even so, the question is not fully closed because ____.
How this is graded (rubric)
For: Write Mateo's differential note: for each of the four syndromes, state the red flag and write 'present' or 'absent' with the supporting finding, then give a one-line bottom line plus a sentence on what still needs confirming.
| 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 "Write Mateo's differential note: for each of the four syndromes, state the red flag and write 'present' or 'absent' with the supporting finding, then give a one-line bottom line plus a sentence on what still needs confirming.".
- 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 now have a checklist of red flags, and Mateo trips none of them on inspection. But a checklist you eyeball by hand can miss the quiet ones: a tiny deletion of DNA causes no obvious sign, and subtle features hide. How does the team make the syndromic-versus-isolated call rigorous, with an exam protocol and a test, instead of just a confident glance?