🧬 Chapter 101 · Signaling Pathway Disorders

Nelson Textbook of Pediatrics 22nd Edition | RASopathies (Noonan, Costello, CFC, NF1, Legius), Sonic Hedgehog pathway (holoprosencephaly, Gorlin syndrome), Ciliopathies (Joubert, Bardet-Biedl, Meckel-Gruber), Craniosynostosis syndromes (FGFR, TWIST, EFNB1).

🌐 paeds.online — Pakistan's Pediatric Platform

📋 30 Clinical Scenarios — Signaling Pathway Disorders (FCPS level)

📇 High‑Yield Review Cards (Signaling Pathways)

🧬 Pathway Disorders: Clinical Recognition

Click any disorder to review pathway, clinical features, and genetic testing.
⭐ Key: RASopathies (Noonan, NF1, Costello, CFC) → dysregulation of RAS/MAPK pathway → craniofacial, cardiac (pulmonic stenosis), growth, skin findings. Ciliopathies → multi-organ (renal, retinal, brain, liver). SHH pathway → holoprosencephaly, polydactyly.

📋 Stepwise Approach: Diagnosis & Management of Pathway Disorders

    ⚡ Reflex Prompts — Pathway Disorder Recognition

    📖 Summary: Signaling Pathway Disorders — Nelson 22nd Ed, Ch 101