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Diseases » Noonan Syndrome » Summary

What is Noonan Syndrome?

What is Noonan Syndrome?

  • Noonan Syndrome: A rare genetic disorder characterized by a webbed neck, chest deformity, undescended testes and pulmonic stenosis.
  • Noonan Syndrome: A cardiofacial syndrome with a variable phenotype, which may change with age, many characteristics of which overlap those of the Turner syndrome. Short stature and mild mental retardation are the main features of this syndrome. Webbed neck, heart defects, chest deformities, characteristic facial features, and other abnormalities, and occasional hyperpyrexia may be associated. Cardiofaciocutaneous and Noonan syndromes are sometimes considered the same entity.
    Source - Diseases Database

Noonan Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Noonan Syndrome, or a subtype of Noonan Syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Noonan Syndrome as a "rare disease".
Source - Orphanet

Noonan Syndrome: Introduction

Types of Noonan Syndrome:

Broader types of Noonan Syndrome:

How many people get Noonan Syndrome?

Prevalance of Noonan Syndrome: estimated 1 per 1,000 - 2,500 people are affected by Noonan syndrome, Genetics Home Reference website
Prevalance Rate of Noonan Syndrome: approx 1 in 1,000 or 0.10% or 272,000 people in USA [about data]

How serious is Noonan Syndrome?

Complications of Noonan Syndrome: see complications of Noonan Syndrome

What causes Noonan Syndrome?

Causes of Noonan Syndrome: see causes of Noonan Syndrome

What are the symptoms of Noonan Syndrome?

Symptoms of Noonan Syndrome: see symptoms of Noonan Syndrome

Complications of Noonan Syndrome: see complications of Noonan Syndrome

Noonan Syndrome: Testing

Diagnostic testing: see tests for Noonan Syndrome.

Misdiagnosis: see misdiagnosis and Noonan Syndrome.

How is it treated?

Doctors and Medical Specialists for Noonan Syndrome: Medical Geneticist ; see also doctors and medical specialists for Noonan Syndrome.
Treatments for Noonan Syndrome: see treatments for Noonan Syndrome
Research for Noonan Syndrome: see research for Noonan Syndrome

Name and Aliases of Noonan Syndrome

Main name of condition: Noonan Syndrome

Other names or spellings for Noonan Syndrome:

female pseudo-Turner syndrome, Pseudo-Turner syndrome, Male Turner syndrome, Turner phenotype with normal karyotype, NS1

Female pseudo-Turner syndrome, Male Turner syndrome, NS1, Turner phenotype with normal karyotype
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Noonan Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Noonan Syndrome:


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