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What is Ruvalcaba-Myhre-Smith Syndrome?

What is Ruvalcaba-Myhre-Smith Syndrome?

  • Ruvalcaba-Myhre-Smith Syndrome: A syndrome which is characterized by an abnormal shortness of the metacarpal or metatarsal bones and mental and physical retardation.

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

Ruvalcaba-Myhre-Smith Syndrome: Introduction

Types of Ruvalcaba-Myhre-Smith Syndrome:

Broader types of Ruvalcaba-Myhre-Smith Syndrome:

What causes Ruvalcaba-Myhre-Smith Syndrome?

Causes of Ruvalcaba-Myhre-Smith Syndrome: see causes of Ruvalcaba-Myhre-Smith Syndrome

What are the symptoms of Ruvalcaba-Myhre-Smith Syndrome?

Symptoms of Ruvalcaba-Myhre-Smith Syndrome: see symptoms of Ruvalcaba-Myhre-Smith Syndrome

Ruvalcaba-Myhre-Smith Syndrome: Testing

Diagnostic testing: see tests for Ruvalcaba-Myhre-Smith Syndrome.

Misdiagnosis: see misdiagnosis and Ruvalcaba-Myhre-Smith Syndrome.

How is it treated?

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

Name and Aliases of Ruvalcaba-Myhre-Smith Syndrome

Main name of condition: Ruvalcaba-Myhre-Smith Syndrome

Other names or spellings for Ruvalcaba-Myhre-Smith Syndrome:

Bannayan-Zonana syndrome, Bannayan-Riley-Ruvalcaba syndrome, Macrocephaly, Pseudopapilledema, and multiple hemangiomas, Macrocephaly, multiple lipomas, and hemangiomata, Riley-Smith syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Ruvalcaba-Myhre-Smith Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Ruvalcaba-Myhre-Smith Syndrome:

  • Gastrointestinal polyposis
  • Macrocephaly
  • Hyperpigmented genital macules
  • Delayed psychomotor development in childhood
  • Prominent corneal nerves
  • Lipid storage myopathy
  • Subcutaneous lipomas
 

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