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Operative Management of Spinal Deformity Secondary to Hajdu-Cheney Syndrome
Cody J Falls1, Paul S Page2, James A Stadler2
1Orthopedic Surgery, University of Wisconsin School of Medicine and Public Health, Madison, USA.
Insights
Hajdu-Cheney syndrome (HCS) is a rare genetic disorder causing severe osteoporosis and skeletal issues. Spinal surgery in two HCS patients showed excellent outcomes, improving symptoms significantly.
Area of Science:
- Genetics
- Orthopedics
- Rare Diseases
Background:
- Hajdu-Cheney syndrome (HCS) is an extremely rare genetic disorder.
- It is primarily linked to mutations in the NOTCH2 gene, affecting bone metabolism.
- HCS leads to severe osteoporosis and significant skeletal abnormalities, increasing spinal deformity risk.
Observation:
- Patients with HCS present with unique syndromic features, including ligamentous laxity and increased osteoclast activity.
- These features necessitate specialized surgical considerations, particularly for spinal conditions.
- Only nine cases of spinal surgery in HCS patients have been previously reported.
Findings:
- This report details two cases of HCS patients who underwent surgery for progressive spinal deformity.
- Both patients experienced significant symptom improvement and excellent outcomes six months post-surgery.
Implications:
- Surgical intervention can be a viable and effective treatment for progressive spinal deformity in Hajdu-Cheney syndrome.
- These findings highlight the importance of specialized surgical approaches for rare skeletal disorders.
- Further research into HCS pathophysiology and surgical management is warranted.
Abstract:
Hajdu-Cheney syndrome (HCS) is an exceedingly rare disease with fewer than 100 cases described in the medical literature. It is most strongly associated with a defect in the transmembrane protein NOTCH2. Though the exact mechanism in humans is not yet known, the defect results in various skeletal abnormalities including severe osteoporosis placing these patients at high risk for progressive spinal deformity. Due to various common syndromic features including ligamentous laxity, increased osteoclast activity, skeletal malformations, patency of cranial sutures, and the aforementioned severe osteoporosis, these patients require special consideration from treating surgeons. There are currently only nine reported cases of spinal surgery in HCS patients. Herein, we describe the cases of two patients with HCS requiring surgery for progressive spinal deformity. Six months following surgery, both patients reported excellent outcomes with significant improvement in symptoms.
