Larsen syndrome

Also known as: Multiple congenital dislocations

Multiple joint dislocations with flat face.

Medical specialty: Orthopedics
Subspecialty: Orthopedics / Skeletal dysplasia
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: B3GAT3, CHST3, FLNB

Etiology & mechanism

Filamin B dysfunction.

Gene(s) involved (3)

B3GAT3CHST3FLNB

Symptoms & signs (5)

cleft palateclubfootflat faciesmultiple joint dislocationsspatulate thumbs

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