🦴 Achondroplasia (FGFR3) vs Diastrophic Dysplasia (SLC26A2)

Nelson Textbook of Pediatrics 22nd Edition | Achondroplasia (Chapter 737): most common skeletal dysplasia, FGFR3 G380R mutation, rhizomelic shortening, macrocephaly, trident hands, foramen magnum stenosis. Treatment: vosoritide (age ≥5 years). Diastrophic Dysplasia (Chapter 738, SLC26A2/DTDST): hitchhiker thumb, cauliflower ears, clubfoot, cleft palate, joint contractures. Autosomal recessive. Normal intelligence in both.

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📋 30 Clinical Scenarios — Achondroplasia & Diastrophic Dysplasia

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🩺 Clinical Recognition: Achondroplasia vs Diastrophic Dysplasia

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📋 Stepwise Management of Achondroplasia & Diastrophic Dysplasia

🔑 Key Principles — Nelson Chapters 737 & 738
• Achondroplasia: FGFR3 G380R (80% new mutations). Rhizomelic shortening, macrocephaly, midface hypoplasia, trident hands, lumbar lordosis, normal intelligence. Vosoritide (CNP analogue) approved for age ≥5 years (increases growth velocity). Monitor for foramen magnum stenosis (myelopathy, apnea, hypotonia) and lumbar spinal stenosis (adults).
• Diastrophic Dysplasia (SLC26A2/DTDST): Autosomal recessive. Hitchhiker thumb (proximal, abducted), cauliflower ears (postnatal inflammation), clubfoot (resistant to Ponseti), cleft palate, joint contractures, scoliosis, short stature (105-130 cm). Normal intelligence. Management: clubfoot surgery, cleft palate repair, scoliosis bracing/surgery.

    ⚡ Reflex Prompts — Clinical Decisions

    📖 Summary: Achondroplasia (FGFR3) & Diastrophic Dysplasia (SLC26A2)