spondylocarpotarsal synostosis syndrome
spondylocarpotarsal synostosis syndromeAn 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).
Defects in FLNB, which encodes filamin B, cause spondylocarpotarsal synostosis syndrome.
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