RecruitingNCT01793168
Neurological
Wolf-Hirschhorn Syndrome
Also known as WHS, 4p deletion syndrome, 4p16.3 monosomy, Pitt-Rogers-Danks syndrome
Wolf-Hirschhorn syndrome is caused by partial deletion of the short arm of chromosome 4 (4p16.
ORPHA:280 ↗Gene WHSC1 (NSD2)Gene FGFRL1 and adjacent genes at 4p16.3Prevalence 1-9 per 100,000 (Orphanet)Onset Neonatal, InfantileGenetic (chromosomal deletion, usually de novo)
1
studies recruiting now
as of 7 Sept 2026
1
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
15 Feb 2013
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, as recorded 7 Sept 2026. Live status on each study page.
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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
Greek warrior helmet facial appearanceIntrauterine growth restrictionIntellectual disabilitySeizuresHypotoniaMidline defects (heart, palate)Short stature
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Wolf-Hirschhorn Syndrome. Not eligibility rules; those are set by each study.
- 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
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).