Larsen syndrome, autosomal dominant


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Larsen syndrome, autosomal dominant

A genetically heterogeneous disorder (OMIM:150250) characterised by multiple joint dislocations, with equinovarus or equinovalgus foot deformities, craniofacial defects (hypertelorism, prominence of the forehead, a depressed nasal bridge and a flattened midface) and accessory carpal bones.

Molecular pathology
Defects in FLNB, which encodes filamin B, cause Larsen syndrome.
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