Sunday, January 29, 2017

Noonan syndrome mnemonic

Hey Awesomites!

NOONan syndrome- the name tells it all :D
- It is a congenital disorder with the gene located on chromosome 12.

Since the sun is most dominant at 12 noon, so it has an autosomal dominant inheritance.

- It is difficult to look high in the sky at noon, therefore everything is down in NOONan syndrome- Low set ears, Downslanting eyes, Low posterior hair line, Low levels of IGF- 1, short stature.

Memory aid added by IkaN: The SUN BURNS at NOON!
Short stature
Unusual facies (Ocular hypertelorism, low set ears)
Neck is webbed

Bleeding disorders
Unusual chest shape (sunken- chest appearance)
RAS MAPK mutation
Nose is flat
Stenosis (Pulmonic stenosis)

Noonan syndrome!

That's all
- Jaskunwar Singh


6 comments:

  1. The PTPN11 gene is located on chromosome 12, but variants in that gene only account for 50% of Noonan syndrome. Many other gene variants can also cause Ns, and they are not all on chromosome 12. For example, SOS1 is on chromosome 2 and RIT1 is on chromosome 1.

    ReplyDelete
    Replies
    1. Yes you are right, Marla. But these variants cause NS in fewer than 20% cases. I just mentioned about the gene mostly involved that is PTPN11 mutations.
      Anyways, thanks for sharing the info :)

      Delete

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