🦴 Section 721.2 · Klippel-Feil Syndrome

Nelson Textbook of Pediatrics 22nd Edition | Klippel-Feil syndrome (KFS): congenital fusion (failure of segmentation) of ≥2 cervical vertebrae. Classic triad (short neck, low posterior hairline, decreased cervical ROM) present in <50% of patients. Associated anomalies: Sprengel deformity (congenital elevation of scapula, 30%), congenital scoliosis (50%), genitourinary anomalies (25-35%), sensorineural hearing loss (5-30%), congenital heart disease (5-10%), Chiari malformation, basilar invagination. Evaluation: MRI cervical spine, renal ultrasound, echocardiogram, audiometry. Treatment: Nonoperative for pain; surgical fusion for instability or neurologic deficit.

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📋 30 Clinical Scenarios — Klippel-Feil Syndrome

📇 High‑Yield Review Cards

🩺 Clinical Recognition: Klippel-Feil Syndrome

Select a presentation to review diagnostic clues and management per Nelson 721.2.

📋 Stepwise Management of Klippel-Feil Syndrome

🔑 Key Principles — Nelson Section 721.2
• Genetics: Most sporadic; autosomal dominant and recessive forms described (MEOX1, GDF3, GDF6, MYO18B).
• Classic triad (present in <50%): Short neck, low posterior hairline, decreased cervical ROM.
• Associated musculoskeletal: Sprengel deformity (30%), congenital scoliosis (50%), cervical ribs, omovertebral bar.
• Visceral anomalies: GU (25-35% — renal agenesis, horseshoe kidney), cardiac (5-10% — VSD, ASD), hearing loss (5-30% sensorineural).
• Evaluation: MRI cervical spine, renal ultrasound, echocardiogram, audiometry.
• Treatment: Nonoperative for pain; surgical decompression/fusion for cervical instability or myelopathy.

    ⚡ Reflex Prompts — Clinical Decisions

    📖 Summary: Klippel-Feil Syndrome (Nelson 721.2)