If it's suspected that you or your child has Noonan syndrome, you're likely to start by seeing your primary care doctor or your child's pediatrician. However, depending on the signs and symptoms, you or your child may be referred to a specialist — for example, a cardiologist or a geneticist.
Here's some information to help you get ready for your appointment. If possible, bring a family member or friend with you. A trusted companion can help you remember information and provide emotional support.
What you can do
Before the appointment, make a list of:
- Signs or symptoms that concern you
- Any medications, including vitamins, herbs, over-the-counter medications or other supplements, and the doses
- Questions to ask the doctor to make the most of your appointment
Some questions to ask might include:
- Do the symptoms indicate Noonan syndrome?
- What tests are needed to confirm the diagnosis?
- Are there other possible causes?
- What other problems might occur because of Noonan syndrome?
- What's the best course of action for treating and managing these problems?
- What are the alternatives to the primary approach that you're suggesting?
- Do you recommend seeing a specialist?
- Are there brochures or other printed material that I can have? What websites do you recommend?
Don't hesitate to ask other questions during the appointment.
What to expect from your doctor
Your doctor may ask questions such as:
- When did you first notice that something may be wrong?
- What signs and symptoms have you noticed?
- Do you have any family history of Noonan syndrome?
- Do you have any family members who've had congenital heart disease, bleeding problems or short stature?
Nov. 30, 2016
- Conboy E, et al. Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. Journal of Medical Genetics. 2016;53:123.
- Rojnueangnit K, et al. High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: Genotype-phenotype correlation. Human Mutation. 2015;36:1052.
- Rogol AD. Causes of short stature. http://www.uptodate.com/home. Accessed June 26, 2016.
- Roberts AE, et al. Noonan syndrome. The Lancet. 2013;381:333.
- National Library of Medicine. Noonan syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/noonan-syndrome. Accessed June 26, 2016.
- Romano AA, et al. Noonan syndrome: Clinical features, diagnosis, and management guidelines. Pediatrics. 2010;126:745.
- Learning about Noonan syndrome. National Human Genome Research Institute. https://www.genome.gov/25521674/learning-about-noonan-syndrome/. Accessed June 26, 2016.
- Noonan syndrome. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/gard/10955/noonan-syndrome/resources/1. Accessed June 26, 2016.
- Noonan syndrome. National Organization for Rare Disorders. http://rarediseases.org/rare-diseases/noonan-syndrome/. Accessed June 26, 2016.
- Babovic-Vuksanovic D (expert opinion). Mayo Clinic, Rochester, Minn. June 29, 2016.