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Diseases » Martsolf syndrome » Summary

What is Martsolf syndrome?

What is Martsolf syndrome?

  • Martsolf syndrome: A rare inherited condition characterized by mental retardation, cataracts, small head and hypogonadism (reduced production of hormones by ovaries or testes).
  • Martsolf syndrome: Mental deficiency, gonadal hypofunction, short stature, "old looking" face, cataracts, and other defects.
    Source - Diseases Database

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

Martsolf syndrome: Introduction

Types of Martsolf syndrome:

Broader types of Martsolf syndrome:

Who gets Martsolf syndrome?

Gender Ratio for Martsolf syndrome: male predominance

How serious is Martsolf syndrome?

Complications of Martsolf syndrome: see complications of Martsolf syndrome

What causes Martsolf syndrome?

Causes of Martsolf syndrome: see causes of Martsolf syndrome

What are the symptoms of Martsolf syndrome?

Symptoms of Martsolf syndrome: see symptoms of Martsolf syndrome

Complications of Martsolf syndrome: see complications of Martsolf syndrome

Onset of Martsolf syndrome: infancy

Martsolf syndrome: Testing

Diagnostic testing: see tests for Martsolf syndrome.

Misdiagnosis: see misdiagnosis and Martsolf syndrome.

How is it treated?

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

Name and Aliases of Martsolf syndrome

Main name of condition: Martsolf syndrome

Other names or spellings for Martsolf syndrome:

cataract, mental retardation, hypogonadism

Microcephaly-mental retardation-cataract-hypogonadism syndrome, Severe mental retardation, cataracts, short stature, primary hypogonadism, and minor digital and cephalic abnormalities
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)


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