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Noonan Syndrome - Help Please

Discussion in 'General Issues and Discussion Forum' started by Trent Baker, Apr 4, 2008.

  1. Trent Baker

    Trent Baker Active Member

    Members do not see these Ads. Sign Up.
    Does anyone know much about Noonan Syndrome? I have a 14 year old boy who presents with ridged hallux nails that look for all money like trauma nails that have started to regrow.

    Mum reports that the boy has recently been diagnosed with Noonan Syndrome and knows nothing about it. She mentioned that the nail growth can be affected by the condition, which suggests that it may be a metabolic disorder.

    Can anyone shed some light on this for me please? At present I'm treating it as a trauma nail. There is ridging and some moderate involution with a history of ingrowns. If this is related to the Noonan Syndrome what is the suggested treatment?

  2. Craig Payne

    Craig Payne Moderator

    Treated a few over the years - wider dystrophic nails are common (and probably part of the syndrome).
  3. admin

    admin Administrator Staff Member

    The links in this Wikipedia insert are live, so can be followed:

    Noonan syndrome

    Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder and is named after Jacqueline Noonan, a pediatric cardiologist. It is referred to as the male version of Turner's syndrome;[1][2] however, the genetic causes of Noonan syndrome and Turner syndrome are distinct and both males and females are affected. The principal features include congenital heart defect (typically pulmonary valve stenosis with dysplastic pulmonary valve also atrial septal defect and hypertrophic cardiomyopathy), short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge. NS is a RASopathy, and is one of several disorders that are caused by a disruption of RAS-MAPK signaling pathway.

    It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to Down syndrome. However, the range and severity of features can vary greatly in patients with NS. Therefore, the syndrome is not always identified at an early age.

    1. ^ Curcić-Stojković O, Nikolić L, Obradović D, Krstić A, Radić A (1978). "[Noonan's syndrome. (Male Turner syndrome, Turner-like syndrome)]". Med Pregl. 31 (7–8): 299–303. PMID 692497. 
    2. ^ "Noonan syndrome" at Dorland's Medical Dictionary
  4. admin

    admin Administrator Staff Member

  5. Trent Baker

    Trent Baker Active Member

    Thanks for the information. Once again much appreciated.


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