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What is Rothmund-Thomson Syndrome?

What is Rothmund-Thomson Syndrome?

  • Rothmund-Thomson Syndrome: A syndrome which is characterized by atrophy, pigmentation and telangiectasia of the skin.
  • Rothmund-Thomson Syndrome: An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of hair, nails, and teeth, and hypogonadism.
    Source - Diseases Database

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

Rothmund-Thomson Syndrome: Introduction

Types of Rothmund-Thomson Syndrome:

Broader types of Rothmund-Thomson Syndrome:

How serious is Rothmund-Thomson Syndrome?

Complications of Rothmund-Thomson Syndrome: see complications of Rothmund-Thomson Syndrome

What causes Rothmund-Thomson Syndrome?

Causes of Rothmund-Thomson Syndrome: see causes of Rothmund-Thomson Syndrome

What are the symptoms of Rothmund-Thomson Syndrome?

Symptoms of Rothmund-Thomson Syndrome: see symptoms of Rothmund-Thomson Syndrome

Complications of Rothmund-Thomson Syndrome: see complications of Rothmund-Thomson Syndrome

Rothmund-Thomson Syndrome: Testing

Diagnostic testing: see tests for Rothmund-Thomson Syndrome.

Misdiagnosis: see misdiagnosis and Rothmund-Thomson Syndrome.

How is it treated?

Doctors and Medical Specialists for Rothmund-Thomson Syndrome: Medical Geneticist ; see also doctors and medical specialists for Rothmund-Thomson Syndrome.
Treatments for Rothmund-Thomson Syndrome: see treatments for Rothmund-Thomson Syndrome
Research for Rothmund-Thomson Syndrome: see research for Rothmund-Thomson Syndrome

Name and Aliases of Rothmund-Thomson Syndrome

Main name of condition: Rothmund-Thomson Syndrome

Other names or spellings for Rothmund-Thomson Syndrome:

Bloch-Stauffer dyshormonal syndrome, Poikiloderma congenitale Source - Diseases Database

Poikiloderma of Rothmund-Thomson, Poikiloderma atrophicans and cataract, RTS (Rothmund-Thomson syndrome)
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Rothmund-Thomson Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Rothmund-Thomson Syndrome:

 

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