29/08/2026
Vomiting since infancy. Feeding battles every single meal. A growth curve that had quietly fallen off the chart years ago — and nobody had connected the dots.
📸Abeeha Safdar
Then we actually looked at her.
Eyebrows meeting in the middle (synophrys). Long, thick lashes. Small hands with a short thumb. Excess fine hair on her back and arms.
That's not a random collection of features. That's a face genetics can read like a fingerprint.
Diagnosis: Cornelia de Lange Syndrome (CdLS) — a rare cohesin-pathway disorder, and the real reason her reflux never responded to standard treatment. 🦓
How we got there:
🔹 Clinical diagnostic score ≥11 on exam (facial gestalt + limb + growth findings)
🔹 pH-impedance study + EGD → confirmed severe, erosive GERD
🔹 NIPBL gene sequencing (first-line, ~60% diagnostic yield) → de novo pathogenic variant confirmed
🔹 Baseline echo, hearing screen, hand/hip X-rays, ophtho exam — because CdLS rarely affects just one system
How we manage it:
💊 GERD: high-dose PPI + prokinetic; refractory cases often need Nissen fundoplication
🍼 Nutrition: feeding therapy, ± gastrostomy tube if oral intake can't keep up with growth needs
🧬 Genetics: confirm the variant, counsel the family, connect them to CdLS-specific resources
🧠 Development: early intervention — speech, OT, PT, behavioral support
👀 Surveillance: cardiology, audiology, ophthalmology, orthopedics — CdLS needs a village, not a single specialist
The takeaway: refractory GERD + growth delay + a distinctive facial gestalt in a child isn't "just reflux that needs a higher dose." It's a pattern worth a genetics referral.