A 4-year-old with hypotonia, delayed milestones, and a puzzling constellation of features
⚡ Intermediate
Patient Snapshot
Patient
Mateo R., 4 yr
Setting
Primary Care
Chief Complaint
Poor coordination
Prior Visits
3 specialists
Dx to date
None
Avg real-world Dx
4.7 years
Mateo is a 4-year-old boy brought in by his parents for increasing clumsiness and frequent falls over the past 18 months. He walked at 20 months and still has not learned to run. Parents note he tires easily and has difficulty climbing stairs. He was in the NICU for 5 days after birth for low muscle tone. Development: first words at 24 months; currently 2–3 word phrases. He is described as a "happy child" who rarely cries. Exam: low-set ears, epicanthal folds, single palmar crease bilaterally, mild hypotonia, and decreased deep tendon reflexes. Previous workup: normal brain MRI, normal metabolic panel. Parents have seen a neurologist ("inconclusive") and a developmental pediatrician ("global delay, etiology unclear").
Step 1 of 5
Reasoning Pathway
1
Recognize the Pattern
Hypotonia + dysmorphic features + developmental delay = genetic until proven otherwise
2
Refine the Differential
Use dysmorphology to narrow — which chromosomal or single-gene disorder fits?
3
Order the Right Test
Choose the highest-yield genetic test — not all tests are equal for this presentation
4
Interpret the Result
What does a positive chromosome microarray tell you — and what comes next?
5
Counsel and Coordinate
Primary care's role after the genetic diagnosis — family implications, referrals, long-term plan
Clinical Clues Tracker
💤 Neonatal hypotonia
🧠 Global dev. delay
😊 Unusually happy affect
👁️ Epicanthal folds
✋ Single palmar crease
🦵 Decreased DTRs
🔬 Normal brain MRI
📊 Normal metabolic panel
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Case Complete
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🧬 Genetics Module — ReasonDx
This is one of 18 cases in the Genetics Reasoning Module
Built for primary care physicians, medical students, and residents who need to recognize when to think genetically — before ordering a single test. Each case develops a different pattern recognition skill: dysmorphology, metabolic disease, cancer predisposition syndromes, pharmacogenomics, and more.