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Sunday, May 16, 2010

PHELAN-MCDERMID SYNDROME (22Q13) / BOLINHOS DA BETA

Aqui fica uma informação breve sobre mais uma doença rara, que tomei conhecimento hoje.
Estava a ver a RTP2 e num programa acabou por ser entrevistada uma senhora, Elisabete Ferreira, mãe corajosa e empreendedora. Consultei e se precisarem experimentem http://www.bolos3d.weblog.pt/ .
«also known as 22q13 Deletion Syndrome -- is caused by the absence / loss of genes at the tip of the 22nd chromosome, with lack of the Shank3 / ProSAP2 gene suspected as the primary cause of the symptoms associated with the syndrome. This gene plays a pivotal role in development of the human nervous system, including the brain, and loss of this genetic component prevents proper nervous system construction during fetal development.



There is a wide range of severity of symptoms observed in people with the deletion, 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 have problems with eating, sleeping and emotional stability.

There are currently just over 450 members in our database worldwide (as of September 2009), this number includes children and adults.  The large majority of these cases are small children due to the recent (1998) development of a reliable test called the Fluorescence In Situ Hybridization Test (aka, FISH) for the deletion.  The actual number of people with the deletion is certainly much larger. Outreach to find and help these families with older children is one of the objectives of the support group.

Most, but not all, children with this syndrome will have a number of characteristic features:
  • Newborns usually have floppy muscle tone (hypotonia)
  • Newborns/Infants have a difficult time drinking from the bottle/breast - fluids tend to leak out of their mouths making for a messy and wet meal
  • Delayed in sitting up, rolling over, crawling and walking
  • Delayed or absent speech
  • Normal growth or may be tall for age
  • Facial features are fairly subtle and may not be recognized by your doctor: long head shape (dolicocephaly), puffiness around the eyes, long eyelashes, droopy eyelids, puffy cheeks and large ears.
  • Physical features: large, fleshy hands, underdeveloped toenails that may peel off effortlessly and the inability to perspire, causing overheating readily.»                                                                                              In, http://22q13.org/j15/

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