What is Fitzsimmons-Guilbert syndrome?

What is Fitzsimmons-Guilbert syndrome?

• Fitzsimmons-Guilbert syndrome: A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly.

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

Fitzsimmons-Guilbert syndrome: Introduction

Types of Fitzsimmons-Guilbert syndrome:

Broader types of Fitzsimmons-Guilbert syndrome:

• Movement conditions
• Muscle conditions
• Limb conditions
• Musculoskeletal conditions
• Nervous system conditions
• Hand conditions
• Bone or skeletal conditions
• more types...»

How serious is Fitzsimmons-Guilbert syndrome?

Complications of Fitzsimmons-Guilbert syndrome: see complications of Fitzsimmons-Guilbert syndrome

What causes Fitzsimmons-Guilbert syndrome?

Causes of Fitzsimmons-Guilbert syndrome: see causes of Fitzsimmons-Guilbert syndrome

What are the symptoms of Fitzsimmons-Guilbert syndrome?

Symptoms of Fitzsimmons-Guilbert syndrome: see symptoms of Fitzsimmons-Guilbert syndrome

Complications of Fitzsimmons-Guilbert syndrome: see complications of Fitzsimmons-Guilbert syndrome

Fitzsimmons-Guilbert syndrome: Testing

Diagnostic testing: see tests for Fitzsimmons-Guilbert syndrome.

Misdiagnosis: see misdiagnosis and Fitzsimmons-Guilbert syndrome.

How is it treated?

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

Name and Aliases of Fitzsimmons-Guilbert syndrome

Main name of condition: Fitzsimmons-Guilbert syndrome

Paraplegia - brachydactyly - cone-shaped epiphysis, paraplegia [brachydactyly - cone-shaped epiphyses], spastic paraplegia associated with brachydactyly type E, Fitzsimmons syndrome

Fitzsimmons syndrome, Spastic paraplegia associated with brachydactyly type E
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Fitzsimmons-Guilbert syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Fitzsimmons-Guilbert syndrome:

• Progressive spastic paraplegia
• Brachydactyly
• Cone shaped epiphyses
• Dysarthria
• Pectus carinatum
• Pectus excavatum
• Intellectual deficit

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