Case Report: A de novo NSD2 multiple exon deletion variant in a child with Rauch-Steindl syndrome
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By
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Chanchan Li
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Mingyu Xie
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Qi Peng
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Xiaomei Lu
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Baimao Zhong
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May 15, 2026
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Clinical Scorecard: Novel De Novo Deletion of Multiple Exons in NSD2 Identified in a Pediatric Case of Rauch-Steindl Syndrome
At a Glance
| Category | Detail |
|---|
| Condition | |
| Key Mechanisms | |
| Target Population | Pediatric patients, particularly those aged 0-18 with developmental delays |
| Care Setting | |
Key Highlights
- Add: 'Utilized whole-exome sequencing for accurate diagnosis.'
Guideline-Based Recommendations
Diagnosis
Management
- Implement early intervention strategies for developmental delays
- Provide supportive therapies for language and motor skills (e.g., speech therapy, occupational therapy)
Monitoring & Follow-up
Risks
Patient & Prescribing Data
Focus on developmental support (e.g., speech therapy, occupational therapy) and monitoring of growth and behavior
Clinical Best Practices
- Conduct comprehensive developmental assessments
- Engage in multidisciplinary care involving geneticists, neurologists, and therapists
- Educate families about the syndrome and available resources
- Include follow-up care recommendations for ongoing support
Related Resources & Content
