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.
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These have also been found in SHS (DA2B) [4] and multiple pterygium syndrome (DA8) [22] and quite recently in autosomal dominant spondylocarpotarsal synostosis syndrome [23].
Paul et al., "Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome," European Journal of Human Genetics, vol.
Spondylocarpotarsal synostosis syndrome and cervical instability.

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