untangling this thing we call life…


My beautiful, beautiful Little Man… In many ways a very typical face of Noonan syndrome

Noonan syndrome is a genetic condition in which a mutated gene causes problems in production of a protein (parent speak!!).  It is thought to be fairly common, though real-life experience suggests that many people with Noonan syndrome go undiagnosed, possibly because they have such mild symptoms.

The Noonan Syndrome Support Group offers wonderful support and aids research into the syndrome.  It is backed by Dr Noonan herself and allows people affected by the syndrome to support each other through meetings and via email.  They have a Facebook page and are currently updating their website.

These guidelines were put together only a couple of years ago by a group of doctors in the UK and Europe and are beautifully clear.  Invaluable to have a copy as a parent of a child with NS or a “patient” oneself.  Make sure you take it with you to any medical appointment as it will back up any need for further referrals or checks!

The list of possible characteristics below is taken from Wikipedia and gives an insight as to the complexity of this syndrome.  It is also useful to note that due to the nature of the syndrome, new symptoms can occur throughout life and the importance particularly of specialised cardiac follow-up cannot be overstated.

From Wikipedia:

Often called a “hidden” condition, the person affected may have no obvious casual signs to the onlooker, but the problems may be many and complex. The most prevalent (common) signs are highlighted in bold with frequency listed in parentheses.

By organ system


2/3 of patients have one of the following heart defects

Gastrointestinal system

Genito-urinary system

Lymphatic system

  • Posterior cervical hygroma (webbed neck)
  • Lymphedema (build-up of body fluid due to poor functioning of the lymphatic system)



  • Some patients with Noonan Syndrome suffer from severe joint pain or muscle pain often with no identifiable cause



Arnold-Chiari Malformation (Type 1) has been noted in some patients with Noonan Syndrome

By physical appearance

Stature and posture


  • Excess skin on the back of the neck
  • Low hairline at the nape of the neck
  • High hairline at the front of the head
  • Large head
  • Triangular face shape
  • Broad forehead
  • Short neck, webbed neck, posterior cervical
  • Curly hair



  • Small, upturned nose

Ears and hearing

  • Low set ears —(over 90%)
  • Backward rotated ears —(over 90%)
  • Thick helix of ear (outer rim) —(over 90%)
  • Incomplete folding of ears
  • Chronic Otitis media (ear infections)

Mouth and speech

  • Deeply grooved philtrum (top lip line) —(over 90%)
  • Micrognathia (undersized lower jaw)
  • High Arched palate
  • Dental problems
  • Articulation Difficulties
  • Poor tongue control


  • Bluntly ended fingers
  • Extra padding on fingers and toes
  • Edema of the back of hands and tops of feet
  • Cubitus valgus (elbow deformity: with abnormal turning-in)



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