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What is Bork-Stender-Schmidt syndrome?

What is Bork-Stender-Schmidt syndrome?

  • Bork-Stender-Schmidt syndrome: A very rare syndrome characterized primarily by unusual hair, retinal disease, dental problems and short fingers.

Bork-Stender-Schmidt syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Bork-Stender-Schmidt syndrome, or a subtype of Bork-Stender-Schmidt syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Bork-Stender-Schmidt syndrome: Introduction

Types of Bork-Stender-Schmidt syndrome:

Broader types of Bork-Stender-Schmidt syndrome:

What causes Bork-Stender-Schmidt syndrome?

Causes of Bork-Stender-Schmidt syndrome: see causes of Bork-Stender-Schmidt syndrome

What are the symptoms of Bork-Stender-Schmidt syndrome?

Symptoms of Bork-Stender-Schmidt syndrome: see symptoms of Bork-Stender-Schmidt syndrome

Bork-Stender-Schmidt syndrome: Testing

Diagnostic testing: see tests for Bork-Stender-Schmidt syndrome.

Misdiagnosis: see misdiagnosis and Bork-Stender-Schmidt syndrome.

How is it treated?

Doctors and Medical Specialists for Bork-Stender-Schmidt syndrome: Pediatrician ; see also doctors and medical specialists for Bork-Stender-Schmidt syndrome.
Treatments for Bork-Stender-Schmidt syndrome: see treatments for Bork-Stender-Schmidt syndrome

Name and Aliases of Bork-Stender-Schmidt syndrome

Main name of condition: Bork-Stender-Schmidt syndrome

Other names or spellings for Bork-Stender-Schmidt syndrome:

Bork syndrome, tricho-retino-dento-digital syndrome, Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly

Bork syndrome, Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Bork-Stender-Schmidt syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Bork-Stender-Schmidt syndrome:

 

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