This website provides information on patients with recessive variants in the kinesin family binding protein gene (KIFBP), encoding a kinesin family member (KIF)-binding protein, including clinical data, molecular data, management and research options.

The syndrome caused by autosomal recessive variants in the KIFBP gene is a multisystem disorder, also called Goldberg-Shprintzen syndrome characterized by:
•    Impaired intellectual development
•    Microcephaly
•    Dysmorphic facial features
•    Hirschsprung disease
•    Brain malformations
•    Megalocornea
•    Urogenital anomalies

Not all individuals with pathogenic variants in KIFBP necessarily shall of these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in KIFBP.

Birk Möller, Graduate student, Department of Pediatrics, University of Cologne, Cologne, Germany, bmoelle2@smail.uni-koeln.de
Hormos Dafsari, MD, Department of Pediatrics, University of Cologne & Max-Planck-Institute for Biology of Ageing, Cologne, Germany, hormos.Dafsari@uk-koeln.de