Rare Conditon Called Phelan McDermid Syndrome and Chromosome 22 Ring Makes Jack A One in 11 Million Child


My name is Jen and my son Jack has a condition that is happens to one in a 11 million people!  Jack has Phelan-McDermid Syndrome (PMS) and Chromosome 22 Ring.

Phelan-McDermid Syndrome (PMS) is a genetic syndrome caused by disruption of the SHANK3/ProSAP2 gene on the terminal end of chromosome 22. The most common form of PMS is caused by a de novo chromosomal deletion. For this reason the original name for PMS was 22q13 deletion syndrome.

There is a wide range of severity of symptoms observed in people with the Phelan McDermid Syndrome, but most exhibit moderate to severe developmental delays, physically and intellectually, but especially in speaking and communicating. Very low muscle tone is a common trait of the syndrome, and many kids with PMS have problems with eating, sleeping and emotional stability.

 

 

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Global Genes Comments

  1. Hi,
    Just got the diagnosis today. My daughter is 1. Looking for support and maybe just a friend.
    Thanks

  2. HI Sarada,
    we are also Indian origin living in america, we have 2 month old who was diagonised with phelan macdermid. can you please tell us how is ur daughter doing ?

  3. Hello my name is Tessa. I am from holland, my daugther has also a ring chromosome and 22q13 deletion. In holland I know now 3 kids with this combination, Kelsey can speak very well, has epilepse,
    My english is not so good but i am very curious about your boy.

    Greeting from Tessa and Kelsey

    • Hi Telsa,

      My name is sarada. My 20 month old daughter diagonised 22q13. She is not talking yet . She is walking. She is going to all therapies ( speech, occupational, physical).can you please tell me more about your daughter. I live in America but iam Indian origin.

      Sarada

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