Cohen syndrome

Also known as: Pepper syndrome

Syndrome with truncal obesity, neutropenia, retinal dystrophy and microcephaly.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: VPS13B

Etiology & mechanism

VPS13B variants.

Gene(s) involved (1)

VPS13B

Symptoms & signs (9)

hypotoniaintellectual disabilitymicrocephalymyopianarrow hands and feetneutropeniaprominent central incisorsretinal dystrophytruncal obesity

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