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What is Mulibrey Nanism syndrome?

What is Mulibrey Nanism syndrome?

  • Mulibrey Nanism syndrome: A very rare inherited malformation characterized by very small stature (dwarfism), pericardial constriction and yellow dots in fundus of the eye.
  • Mulibrey Nanism syndrome: Growth retardation associated with muscle, liver, brain, and eye abnormalities marked by hypotonia, congestive pericarditis with elevated venous pressure, triangular face often with hydrocephaloid skull, hepatomegaly, yellowish dots and pigment dispersion in the fundus oculi, and borderline mental deficiency Most reported cases come from Finland.
    Source - Diseases Database

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

Mulibrey Nanism syndrome: Introduction

Types of Mulibrey Nanism syndrome:

Broader types of Mulibrey Nanism syndrome:

How serious is Mulibrey Nanism syndrome?

Complications of Mulibrey Nanism syndrome: see complications of Mulibrey Nanism syndrome

What causes Mulibrey Nanism syndrome?

Causes of Mulibrey Nanism syndrome: see causes of Mulibrey Nanism syndrome

What are the symptoms of Mulibrey Nanism syndrome?

Symptoms of Mulibrey Nanism syndrome: see symptoms of Mulibrey Nanism syndrome

Complications of Mulibrey Nanism syndrome: see complications of Mulibrey Nanism syndrome

Mulibrey Nanism syndrome: Testing

Diagnostic testing: see tests for Mulibrey Nanism syndrome.

Misdiagnosis: see misdiagnosis and Mulibrey Nanism syndrome.

How is it treated?

Doctors and Medical Specialists for Mulibrey Nanism syndrome: Medical Geneticist ; see also doctors and medical specialists for Mulibrey Nanism syndrome.
Treatments for Mulibrey Nanism syndrome: see treatments for Mulibrey Nanism syndrome

Name and Aliases of Mulibrey Nanism syndrome

Main name of condition: Mulibrey Nanism syndrome

Other names or spellings for Mulibrey Nanism syndrome:

Muscle-liver-brain-eye nanism, Mulibrey Nanism Syndrome (Perheentupa Syndrome), Pericardial Constriction and Growth Failure, Muscle-liver-brain Nanism, Perheentupa Syndrome, Constrictive Pericarditis with Dwarfism, Mulibrey Dwarfism, Pericardial constriction [growth failure]

Perheentupa syndrome Source - Diseases Database

Dwarfism-pericarditis, Mulibrey dwarfism, Mulibrey nanism, Muscle-liver-brain-eye nanism, Perheentupa syndrome, Pericardial constriction with growth failure, Perheentupa syndrome, Pericardial constriction with growth failure, Dwarfism-pericarditis, Mulibrey dwarfism, Mulibrey nanism
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Mulibrey Nanism syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Mulibrey Nanism syndrome:

 

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