Marshall–Smith syndrome

Also known as: Marshall–Smith syndrome

Accelerated skeletal maturation with failure to thrive and airway problems.

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

Etiology & mechanism

NFIX variants.

Gene(s) involved (1)

NFIX

Symptoms & signs (6)

accelerated bone agechoanal atresiafailure to thriveintellectual disabilityprominent eyesrespiratory problems

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