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Diseases » COACH syndrome » Summary
 

What is COACH syndrome?

What is COACH syndrome?

  • COACH syndrome: A very rare syndrome characterized by ataxia, gaps or holes in various eye structures, mental retardation, liver fibrosis and brain abnormalities.

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

COACH syndrome: Introduction

Types of COACH syndrome:

Broader types of COACH syndrome:

How serious is COACH syndrome?

Complications of COACH syndrome: see complications of COACH syndrome

What causes COACH syndrome?

Causes of COACH syndrome: see causes of COACH syndrome

What are the symptoms of COACH syndrome?

Symptoms of COACH syndrome: see symptoms of COACH syndrome

Complications of COACH syndrome: see complications of COACH syndrome

COACH syndrome: Testing

Diagnostic testing: see tests for COACH syndrome.

Misdiagnosis: see misdiagnosis and COACH syndrome.

How is it treated?

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

Name and Aliases of COACH syndrome

Main name of condition: COACH syndrome

Other names or spellings for COACH syndrome:

cerebellar vermis hypo/aplasia- oligophrenia [congenital ataxia - hepatic fibrosis], Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis

Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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