Snyder-Robinson syndrome


  • Rachel Starks University of Iowa Hospitals and Clinics
  • Patricia Kirby University of Iowa Hospitals and Clinics
  • Michael Ciliberto University of Iowa Hospitals and Clinics
  • Marco Hefti University of Iowa Hospitals and Clinics


Spermine Synthase, Snyder-Robinson syndrome, Mental Retardation, X-linked, Intellectual Disability


Snyder-Robinson syndrome, also known as spermine synthase deficiency, is an X-linked intellectual disability syndrome (OMIM #390583). First described by Drs. Snyder and Robinson in 1969, this syndrome is characterized by an asthenic body habitus, facial dysmorphism, broad-based gait, and osteoporosis with frequent fractures. We report here a pediatric autopsy of a 4 year old male with a history of intellectual disability, gait abnormalities, multiple fractures, and seizures previously diagnosed with Snyder-Robinson syndrome with an SMS gene mutation (c.831G>T:p.L277F). The cause of death was hypoxic-ischemic encephalopathy secondary to prolonged seizure activity. Although Snyder-Robinson syndrome is rare, the need to recognize clinical findings in order to trigger genetic testing has likely resulted in under diagnosis.


Download data is not yet available.




How to Cite

Starks, R., Kirby, P., Ciliberto, M., & Hefti, M. (2018). Snyder-Robinson syndrome. Autopsy and Case Reports, 8(3), e2018031. Retrieved from



Article / Autopsy Case Report