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What is Boucher-Neuhauser syndrome?

What is Boucher-Neuhauser syndrome?

  • Boucher-Neuhauser syndrome: A very rare disorder characterized by spinocerebellar ataxia, eye abnormalities and a failure of the pituitary to stimulate gonadal development during puberty.

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

Boucher-Neuhauser syndrome: Introduction

Types of Boucher-Neuhauser syndrome:

Broader types of Boucher-Neuhauser syndrome:

What causes Boucher-Neuhauser syndrome?

Causes of Boucher-Neuhauser syndrome: see causes of Boucher-Neuhauser syndrome

What are the symptoms of Boucher-Neuhauser syndrome?

Symptoms of Boucher-Neuhauser syndrome: see symptoms of Boucher-Neuhauser syndrome

Boucher-Neuhauser syndrome: Testing

Diagnostic testing: see tests for Boucher-Neuhauser syndrome.

Misdiagnosis: see misdiagnosis and Boucher-Neuhauser syndrome.

How is it treated?

Doctors and Medical Specialists for Boucher-Neuhauser syndrome: Medical Geneticist ; see also doctors and medical specialists for Boucher-Neuhauser syndrome.
Treatments for Boucher-Neuhauser syndrome: see treatments for Boucher-Neuhauser syndrome

Name and Aliases of Boucher-Neuhauser syndrome

Main name of condition: Boucher-Neuhauser syndrome

Other names or spellings for Boucher-Neuhauser syndrome:

spinocerebellar ataxia-hypogonadotrophic, hypogonadism-choroidal dystrophy

 

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