Goldberg–Shprintzen syndrome

Goldberg–Shprintzen syndrome is a very rare connective tissue condition associated with mutations in KIAA1279 gene which encodes KIF-binding protein (KBP), a protein that may interact with microtubules and actin filaments. KBP may play a key role in cytoskeleton formation and neurite growth.

Hirschsprung's disease may be part of the presentation. Developmental abnormalities shown by people with Goldberg–Shprintzen syndrome may be ocular, cardiac, urogenital, and skeletal.

It was first observed by Sugarman and Vogel in 1981 and later established as a separate clinical identity by R B Goldberg and R J Shprintzen in 1982. The sibling pair had microcephaly, hypertelorism, short stature, submucosal cleft palate, learning problems, and Hirschsprung aganglionic megacolon (HAM). This combination of symptoms had not been previously identified with a diagnosis.

Three more cases were observed in 1988 by Hurst et al., although one of these cases could have been Mowat-Wilson syndrome instead of Goldberg–Shprintzen syndrome. Additional cases have since been documented sporadically across the world, although it remains extremely uncommon.