What is N syndrome?

What is N syndrome?

• N syndrome: A rare genetic disorder characterized by mental and physical retardation, eye abnormalities, retarded growth, hearing impairment and a high risk of developing cancers, particularly leukemia. It is an extremely rare condition originally described in two brothers.

N syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that N syndrome, or a subtype of N 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 N syndrome as a "rare disease".
Source - Orphanet

N syndrome: Introduction

How serious is N syndrome?

Prognosis of N syndrome: The condition is severe with a variably shortened life span due to complications such as cancer.
Complications of N syndrome: see complications of N syndrome

What causes N syndrome?

Causes of N syndrome: see causes of N syndrome

What are the symptoms of N syndrome?

Symptoms of N syndrome: see symptoms of N syndrome

Complications of N syndrome: see complications of N syndrome

N syndrome: Testing

Diagnostic testing: see tests for N syndrome.

Misdiagnosis: see misdiagnosis and N syndrome.

How is it treated?

Treatments for N syndrome: see treatments for N syndrome

Name and Aliases of N syndrome

Main name of condition: N syndrome

Hess syndrome, NSX, Mental retardation, malformations, chromosome breakage, and development of T-cell leukemia

Mental retardation, malformations, chromosome breakage, and development of T-cell leukemia, NSX
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

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