Items tagged “syndrome”
224 results found
Article
Neurofibromatosis type 1 (mnemonic)
Clinical diagnosis requires the presence of at least two criteria to confirm the presence of neurofibromatosis type 1 (NF1) 1.
These diagnostic criteria can be remembered with the mnemonic:
CAFE SPOT
Mnemonic
C: café-au-lait spots (greater than six seen during one year)
A: axillary or ingui...
Article
DICER1 syndrome
DICER1 syndrome is a rare autosomal dominant disorder predisposing individuals to the development of multiple tumor types.
Epidemiology
DICER1 syndrome most commonly manifests in children, adolescents and young adults 8.
Clinical presentation
The clinical presentation will depend on the pa...
Article
Cestan-Chenais syndrome
Cestan-Chenais syndrome is a rare brainstem stroke syndrome with features between that of the hemimedullary syndrome (Reinhold syndrome) and the lateral medullary syndrome (Wallenberg syndrome), but distinct to that of Babinski-Nageotte syndrome 1,2.
Clinical presentation
Cestan-Chenais syndr...
Article
12q14 microdeletion syndrome
12q14 microdeletion syndrome or osteopoikilosis-short stature-intellectual disability syndrome is caused by heterozygous deletion at the region of 12q14. The microdeletion affects the LEMD3 gene which has already been implicated in osteopoikilosis.
Epidemiology
Prevalence is <1 in 1 million li...