Goldberg–Shprintzen syndrome

Goldberg–Shprintzen syndrome
Classification and external resources
OMIM 609460

Goldberg–Shprintzen is a condition associated with mutations in KIAA1279 gene which encodes KIF-binding protein (KBP), a protein that may interact with microtubules and actin filament. KBP may play a key role in cytoskeleton formation and neurite growth.[1]

Hirschsprung's disease may be part of the presentation. Individuals with the syndrome exhibit ocular (ptosis, hyperopia, or megalocornea), cardiac, urogenital (vesicoureteral reflux, multicystic renal dysplasia), and skeletal (oligodontia, scoliosis, high-arched palate) developmental abnormalities.

References

  1. ↑ http://hmg.oxfordjournals.org/content/22/12/2387.long#sec-9


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