spondylocarpotarsal synostosis syndrome

spondylocarpotarsal synostosis syndrome

An autosomal recessive disorder (OMIM:272460) characterised by: short stature; vertebral, carpal and tarsal fusion; joint laxity; congenital inguinal hernias; clubfoot; and peculiar facies (hypertelorism, short nasal septum, and broad nose).
Molecular pathology
Defects in FLNB, which encodes filamin B, cause spondylocarpotarsal synostosis syndrome.