About Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn syndrome is caused by partial deletion of the short arm of chromosome 4 (4p16.3), resulting in haploinsufficiency of multiple genes including WHSC1 (NSD2) and FGFRL1. The characteristic 'Greek warrior helmet' facial appearance, intrauterine growth restriction, intellectual disability, seizures, and midline defects (cleft palate, heart defects) define the syndrome. Severity correlates with deletion size. Seizures are present in ~75% and may respond to valproate.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Wolf-Hirschhorn Syndrome trials.
Chromosomal microarray (CMA) documenting 4p16.3 deletion size is required — deletion size influences phenotype and trial stratification
Seizure history, type, and current antiseizure medication regimen are required baseline information
Growth parameters (height, weight, head circumference) and cardiac evaluation are standard baseline assessments
Natural history and observational studies are the primary research option; contact Chromosome 4p Support Group for trial matching
Patient Resources
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