Rough draft.This research track is under review with Dr. Atit's lab. Content and sequence may still change.
The Baby Mateo Case
Disease domainShared clinical backbone (the cleft team)Lesson 3 of 20Your seat: Geneticist / dysmorphologist (cleft team)
Is the Cleft a Clue? The Syndromic Question
Discovery question
Could Mateo's be a sign of a larger condition, or is it traveling alone?
💡 The syndromic question is decided by what else is (or is not) present, not by the itself.
The plan
Prerequisite check
Before this page, you should know
- Clefts are described along three independent axes: which structures (CL, CP, or CLP), ( or , and which side), and completeness (complete or incomplete).
- A is a hidden defect under intact mucosa, recognized by a bifid uvula, a translucency, and a notched , and can be missed at birth.
Today's new idea is only
The syndromic question is decided by what else is (or is not) present, not by the itself.
Learn first
What you will learn
Goal: Students will explain the difference between an and a , and use the rule 'a cleft plus other anomalies suggests a syndrome' to frame Mateo as a genuine open question.
Know by the end
- 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%.
- The clinical rule: a plus one or more associated anomalies (in heart, limbs, eyes, ears, or facial pattern) raises the chance of a syndrome.
- A normal lowers the odds of a syndrome but does not prove its absence, because some features appear later.
Learn first
Model: Four newborns with the same cleft, plus one number
Four babies are born the same week, each with a lip and that looks identical at first glance (composite illustrative cases, not real patients; feature patterns drawn from the syndrome comparison table). Baby A: CLP, plus tiny pits in the center of the lower lip and an aunt with the same . Baby B: CP, plus a heart murmur (conotruncal heart defect), low blood calcium, and a small or absent thymus on imaging. Baby C: CP, plus a very small lower jaw, the tongue falling backward, a high myopia risk, and early hearing concerns. Baby D: CLP and nothing else; heart, limbs, eyes, ears, calcium, jaw, skin, and family history are all unremarkable.
One number from the research library: across all babies born with CL/P, roughly 70% are nonsyndromic (the is the only finding) and about 30% are syndromic (the cleft is one feature of a broader condition). For cleft only, the syndromic share is higher, roughly 50%.
Do the work
Explore (work the model before reading on)
- List every baby that has at least one finding BESIDES the .
- Which single baby (A, B, C, or D) has a and nothing else?
- Babies A, B, and C each have a PLUS extra features in other parts of the body. What does the cleft seem to be a part of in those three, rather than the whole diagnosis?
- Using the 70/30 number, if you lined up 10 random babies born with CL/P, about how many would look like Baby D versus like A, B, or C?
- Mateo's , like Baby D's, found a and no other anomalies. Does that PROVE Mateo has no syndrome, or does it only make a syndrome less likely so far? Explain what could still be hiding.
- In one sentence, what feature of a baby's exam pushes a from 'probably alone' toward 'probably part of a syndrome'?
The plan
Guided notes
1
Two situations a cleft can be in
Model start: A can be isolated (the only finding) or syndromic (one feature of a larger pattern); about 70% of CL/P is nonsyndromic.
- An (also called a ______ ) is one where the cleft is the only apparent anomaly.
- A is one where the is just one feature of a broader syndrome, a recognizable pattern of multiple findings.
2
The geneticist's rule
- A plus one or more ______ anomalies (extra findings in other body systems) raises the chance of a syndrome.
- The careful head-to-toe search for those extra findings is called the ______ exam.
3
Applying it to Mateo
- His found a and no other anomalies, so he looks like Baby D.
- But 'looks isolated at birth' is not 'proven isolated,' because some features can be quiet at birth, so the honest verdict today is: not yet decided, we must check.
Explore
Reading the Research
What to read
Read the title and the abstract only, not the whole paper. Dixon MJ, et al. 2011. Cleft lip and palate: genetic and environmental influences. Nat Rev Genet. [PMID:21331089]
Why this source matters
This is the published evidence behind today's idea: The syndromic question is decided by what else is (or is not) present, not by the itself.
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
You do not need the methods or statistics yet. If a sentence is about lab technique or math you have not learned, mark it and skip it.
Your output
Write one claim-evidence sentence: what this source claims, and the one piece of evidence that backs it up.
Where this fits
Tested on (Ohio WebXam)
Genetics of Disease · 072130
PLTW lesson
MI · Disease domain · Medical Interventions (MI), Unit 2 How to Screen Your Genes, diagnosis and genetic testing
WebXam domain
Bio-Molecular Technology
Evidence to produce
Sort each of the four babies into 'probably syndromic' or 'possibly isolated' with a few words of justification, then write one sentence placing Mateo in the right column for now and one sentence on what you still need to do before you can be sure.
Lab / skill
Clinical backbone (cleft team) · Clinical backbone (cleft team)
Explore
Vetted readings for this lesson
- 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]
The plan
Track your progress today
Check these off as you work through the lesson, then submit. This tells Mr. Mendoza how you're doing so he can help the class. It does not replace turning in your producible.
Use the code Mr. Mendoza gave you, not your name. Saved on this device.
Check off as you finish
- Read the Model and answered the Explore questions.
- Filled in the guided notes in my own words.
- Defined the new vocabulary with an example.
- Built the producible: Sort each of the four babies into 'probably syndromic' or 'possibly isolated' with a few words of justification, then write one sentence placing Mateo in the right column for now and one sentence on what you still need to do before you can be sure.
- Wrote my Claim, Evidence, and Reasoning exit ticket.
Pick your period and code first.
Check yourself
Exit ticket (Claim, Evidence, Reasoning)
- Claim: Right now, Mateo's is best treated as ____ (isolated / syndromic / undecided).
- Evidence: His found ____ besides the , and about ____% of CL/P is nonsyndromic.
- Reasoning: We still cannot close the question because ____.
How this is graded (rubric)
For: Sort each of the four babies into 'probably syndromic' or 'possibly isolated' with a few words of justification, then write one sentence placing Mateo in the right column for now and one sentence on what you still need to do before you can be sure.
| 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 the right way (Schoology for routine work) 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 "Sort each of the four babies into 'probably syndromic' or 'possibly isolated' with a few words of justification, then write one sentence placing Mateo in the right column for now and one sentence on what you still need to do before you can be sure.".
- 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 turned in on Schoology and confirmed.
Explore
Where this leads: careers
Clinical geneticist Dysmorphologist Genetic counselor
What's next: We learned that a can ride alone or come bundled with other features, so the only honest answer right now is 'we do not know yet, we have to check.' But 'check for a syndrome' is too vague to act on. Which specific syndromes must a cleft team actually rule out, and what red flags point to each one?
Describing the Cleft: Type, Side, and How CompleteThe Short List: Ruling Out the Big Cleft Syndromes