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What is Rasmussen-Johnsen-Thomsen syndrome?

What is Rasmussen-Johnsen-Thomsen syndrome?

  • Rasmussen-Johnsen-Thomsen syndrome: A very rare syndrome characterized mainly by the lack of an ear canal opening as well as foot deformities.

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

Rasmussen-Johnsen-Thomsen syndrome: Introduction

Types of Rasmussen-Johnsen-Thomsen syndrome:

Broader types of Rasmussen-Johnsen-Thomsen syndrome:

What causes Rasmussen-Johnsen-Thomsen syndrome?

Causes of Rasmussen-Johnsen-Thomsen syndrome: see causes of Rasmussen-Johnsen-Thomsen syndrome

What are the symptoms of Rasmussen-Johnsen-Thomsen syndrome?

Symptoms of Rasmussen-Johnsen-Thomsen syndrome: see symptoms of Rasmussen-Johnsen-Thomsen syndrome

Rasmussen-Johnsen-Thomsen syndrome: Testing

Diagnostic testing: see tests for Rasmussen-Johnsen-Thomsen syndrome.

Misdiagnosis: see misdiagnosis and Rasmussen-Johnsen-Thomsen syndrome.

How is it treated?

Doctors and Medical Specialists for Rasmussen-Johnsen-Thomsen syndrome: Neonatologist, Otolaryngologist ; see also doctors and medical specialists for Rasmussen-Johnsen-Thomsen syndrome.
Treatments for Rasmussen-Johnsen-Thomsen syndrome: see treatments for Rasmussen-Johnsen-Thomsen syndrome

Name and Aliases of Rasmussen-Johnsen-Thomsen syndrome

Main name of condition: Rasmussen-Johnsen-Thomsen syndrome

Other names or spellings for Rasmussen-Johnsen-Thomsen syndrome:

external auditory canal, bilateral atresia of, with congenital vertical talus, Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance, Rasmussen syndrome

Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance, Rasmussen syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Rasmussen-Johnsen-Thomsen syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Rasmussen-Johnsen-Thomsen syndrome:

 

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