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Noonan S

Miranda Euro

Created on October 18, 2024

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Transcript

Miranda & Lilou

Noonan syndrome

  • Noonan syndrome is a genetic condition that stops typical development in various parts of the body
How many people are affected ?

How long ?

Is it symptomatic, progressive ?

What are the symptoms ?

Click on it !

Treatments, now or in the future ?

History of discovery

Who were the first patients ?
Click on the question and on the red button ! ;)

View its origins

you can click on the pink button

Jacqueline Noonan studied the subject, and presented a clinical study of :
  • associated non-cardiac malformations in children with congenital heart disease at the Midwest Society for Pediatric Research.
  • she also described nine patients that shared distinctive facial features and who had a short stature, pulmonary stenosis and significant chest deformities.
Growth hormones to stimulate growth, help attaining normal height and bone shape and structure (weakless, win strength). So far, no test can predict whether you will develop one or more oh these problems before they begin to affect the body. Regularly scheduled medical visits can identify emerging problems
Unusual facial features, short stature with restricted growth, congenital heart disease Also : - Weak bones- Learning disabilities (slightly lower than average IQ) - Feeding (baby) and behavioral issues.

At least 8 different genes are linked to Noonan Syndrome. The most 3 common ones are :-PTPN 11 gene (chrom 12)-SOS1 gene (chrom 2)-RIT1 gene (chrom 1) The PTPN11 gene common mutations are : -Gly12Asp : 35G --> A -Gly16Asp : 182A --> G In 35-75% of cases, Noonan is inherited, it is an autosomal dominant pattern

The first patient was reported by Kobylinski in 1883. The individual in question was a 20-year old male with marked webbing of the neck, which was a feature that seemed to prompt a majority of the early reports. In 1902, Funke described a patient with a webbed neck, who also presented with a short stature, a deformity of the elbow, undersized jaw and other minor abnormalities. This publication was followed by a report by Ullrich in 1930 who described an 8-year old girl with similar features.