Lujan–Fryns syndrome

Also known as: Lujan syndrome

X-linked intellectual disability with marfanoid habitus.

Medical specialty: Genetics
Subspecialty: Genetics / Single-gene syndromes
Sex & age distribution: Male: affected, X-linked; Female: carriers; Children: yes
Gene(s) involved: MED12

Etiology & mechanism

MED12 mutation.

Gene(s) involved (1)

MED12

Symptoms & signs (6)

behavioral problemshypernasal speechintellectual disabilitylong facemacrocephalymarfanoid habitus

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