The Short List: Ruling Out the Big Cleft Syndromes
Disease domain · Lesson 4 of 20 · Shared clinical backbone (the cleft team)
Today's goal: Students will match each of four high-stakes cleft syndromes (Van der Woude, 22q11.2 deletion, Stickler, Pierre Robin sequence) to its defining red flag and apply the checklist to Mateo to show none of the red flags are present.
This is a model of the work you should turn in. Use it to check your own: match the structure and the level of detail, do not copy it. Your wording should be your own.
Differential note (red flag -> Mateo):
- Van der Woude: red flag = bilateral lower-lip pits -> ABSENT (no pits; family history unrevealing).
- 22q11.2 deletion: red flag = heart defect + low calcium + immune/thymus problem -> ABSENT (heart, calcium, immune screen normal).
- Stickler: red flag = high myopia + hearing loss -> ABSENT (no eye or ear findings on newborn exam).
- Pierre Robin sequence: red flag = micrognathia + glossoptosis + airway obstruction -> ABSENT (normal jaw, forward tongue, quiet breathing).
Bottom line so far: all four red flags absent; cleft is complete unilateral left CLP, no other anomalies. Still to confirm: an eyeball checklist cannot exclude an invisible 22q11.2 microdeletion or subtle features, so a structured exam and possible test remain.
This model shows the level of evidence and organization needed to complete: A red-flag checklist run against the patient's findings with a held-open bottom line.
- Name the variables and include units.
- Enter observations without changing the raw values.
- Check labels, calculations, and patterns before interpreting the data.
Keep the structure. Replace the question, facts, measurements, and evidence. Then recheck units, vocabulary, and whether the conclusion goes beyond the evidence.
Also due today: Flag that 'absent red flags' is not the same as 'proven isolated'; the case is not closed.
The finished product above did not appear all at once. Here is the path from the question to the turned-in work, so you can follow the same steps.
- 1Start from today's question: Why are the checkpoints named?
- 2Work the Model and the Explore questions to reason it out before writing anything.
- 3Pull the specific evidence the product needs from the reading and any database you used.
- 4Write it up in the required format: 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.
- 5Check it against the rubric, then submit.
| 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. |
- 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.
One exam-style question that uses exactly what you practiced today. Try it before you reveal the answer, then read why each choice is right or wrong.
Tap an answer to see the full explanation. Nothing is recorded or graded.
It builds this reusable test skill: Matching a cleft syndrome to its defining red flag.
- Name the concept or data pattern being tested.
- Cross out choices that violate that rule or the evidence.
- Justify the best remaining choice before checking the answer.