Goldberg-Shprintzen syndrome

Goldberg-Shprintzen syndrome is a very rare connective tissue condition associated with mutations in the KIAA1279 gene, which encodes KIF-binding protein, a protein that may interact with microtubules and actin filaments and may play a key role in cytoskeleton formation and neurite growth. Hirschsprung disease may be part of the presentation, and developmental abnormalities may be ocular, cardiac, urogenital and skeletal. The condition was first observed by Sugarman and Vogel in 1981 and was established as a separate clinical identity by R B Goldberg and R J Shprintzen in 1982, describing a sibling pair with microcephaly, hypertelorism, short stature, submucosal cleft palate, learning problems and Hirschsprung aganglionic megacolon. Three more cases were reported in 1988 by Hurst and colleagues, although one of them may have been Mowat-Wilson syndrome instead. Further cases have been documented sporadically worldwide, but it remains extremely uncommon.