Tuesday, February 21, 2017

Fanconis anemia mnemonic


Here's a post on Fanconis anemia!

Fanconi anemia, or constitutional aplastic anemia, is an autosomal recessive disorder, in which there is a genetic defect in a cluster of proteins responsible for DNA repair. Numerous physical abnormalities are often present at birth, and aplastic anemia occurs at about the age of 5 years. Chromosomal breakage analysis can be used to make the diagnosis.

Here's my mnemonic + notes:

Facial anomalies: Microcephaly, small eyes, epicanthal folds, abnormal shape ears, or absent ears.

Upper limb anomalies: Absent thumb and radius, Triphalangeal thumbs.

Kidney abnormalities: Horseshoe kidney, absent, or duplicate kidney.

Macrocytic anemia with variable progression to full-blown pancytopenia.

Intellectual disability: Seen in only 10% of the patients.

Short stature: See the short S in the image? :D

Skin abnormalities: Hyperpigmentation of the trunk and intertriginous areas, café-au-lait spots, vitiligo.

Patients with Fanconi anemia are also susceptible to leukemia and epithelial carcinomas.

That's all!

-IkaN (Missing my note and stylus S  pen so much T_T )


  1. Thanx a lot........following up your Mnemonics since a long time! and i owe you a big thanx for that...

    1. Glad to know you have been studying with me!

      No problem, repay the debt with prayers and good wishes and you owe me nothing! :)

    2. Can anyone put up mnemonics for different pupillary defects


  3. Well done. I love your mnemonics. I am one of your followers :)

  4. Thanks for sharing.most of them were useful


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