Rare Diseases Symptoms Automatic Extraction

[Sneddon's syndrome].

[sneddon syndrome]

Sneddon's syndrome is still raising some nosological and etiopathogenic questions. The occurrence of ischemic stroke in young adults especially in the presence of livedo racemosa should suggest the diagnosis and encourage to perform a skin biopsy, which could strengthen the diagnosis. Management begins with prevention of vascular risk factors and treatments based primarily on anti-thrombotic. Large series of studies over several years could provide clarification of the etiopathogenesis of this syndrome and pave the way for the development of diagnostic criteria and new effective therapies in order to prevent progression to irreversible cognitive impairment.

Diseases presenting "cognitive impairment" symptom

  • 22q11.2 deletion syndrome
  • cadasil
  • canavan disease
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • locked-in syndrome
  • phenylketonuria
  • sneddon syndrome
  • triple a syndrome
  • wolf-hirschhorn syndrome

This symptom has already been validated