3M syndrome

Also known as: Three-M syndrome

Primordial growth failure with slender bones and normal intelligence.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: CCDC8, CUL7, OBSL1

Etiology & mechanism

Ubiquitin ligase complex defects.

Gene(s) involved (3)

CCDC8CUL7OBSL1

Symptoms & signs (6)

fleshy lipsnormal intelligencesevere prenatal and postnatal growth restrictionshort statureslender long bonestall vertebrae

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