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What is Multiple synostoses syndrome 1?

What is Multiple synostoses syndrome 1?

  • Multiple synostoses syndrome 1: A rare genetic disorder characterized by deafness, distinctive facial features and fusion of various bones in the fingers, toes and upper arms.

Multiple synostoses syndrome 1 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Multiple synostoses syndrome 1, or a subtype of Multiple synostoses syndrome 1, 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 Multiple synostoses syndrome 1 as a "rare disease".
Source - Orphanet

Multiple synostoses syndrome 1: Introduction

Types of Multiple synostoses syndrome 1:

Broader types of Multiple synostoses syndrome 1:

How serious is Multiple synostoses syndrome 1?

Complications of Multiple synostoses syndrome 1: see complications of Multiple synostoses syndrome 1

What causes Multiple synostoses syndrome 1?

Causes of Multiple synostoses syndrome 1: see causes of Multiple synostoses syndrome 1

What are the symptoms of Multiple synostoses syndrome 1?

Symptoms of Multiple synostoses syndrome 1: see symptoms of Multiple synostoses syndrome 1

Complications of Multiple synostoses syndrome 1: see complications of Multiple synostoses syndrome 1

Multiple synostoses syndrome 1: Testing

Misdiagnosis: see misdiagnosis and Multiple synostoses syndrome 1.

How is it treated?

Doctors and Medical Specialists for Multiple synostoses syndrome 1: Medical Geneticist ; see also doctors and medical specialists for Multiple synostoses syndrome 1.
Treatments for Multiple synostoses syndrome 1: see treatments for Multiple synostoses syndrome 1

Name and Aliases of Multiple synostoses syndrome 1

Main name of condition: Multiple synostoses syndrome 1

Other names or spellings for Multiple synostoses syndrome 1:

Synostoses, multiple - brachydactyly, Symphalangism brachydactyly, multiple synostosis syndrome of Herrman, facio-audio symphalangism, symphalangism [brachydactyly], synostoses [multiple brachydactyly], polysymphalangism, Synostoses, multiple, with brachydactyly, Symphalangism-brachydactyly syndrome, WL syndrome, Deafness-symphalangism syndrome of Herrmann, Facioaudiosymphalangism syndrome, Synostoses, multiple [brachydactyly]

Deafness-symphalangism syndrome of Herrmann, Facioaudiosymphalangism syndrome, Symphalangism-brachydactyly syndrome, Synostoses, multiple, with brachydactyly, WL syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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