Wolf–Hirschhorn syndrome

Also known as: 4p deletion syndrome

4p16.3 deletion with Greek warrior helmet face.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric genetics
Sex & age distribution: Male: affected; Female: affected, 2:1 female predominance; Children: yes, from birth
Gene(s) involved: LETM1, NSD2

Etiology & mechanism

Contiguous deletion including WHSC1 and LETM1.

Gene(s) involved (2)

LETM1NSD2

Symptoms & signs (6)

cleft palategreek helmet faciesgrowth restrictionheart defectsintellectual disabilityseizures

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.