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What is MacDermot-Winter syndrome?

What is MacDermot-Winter syndrome?

  • MacDermot-Winter syndrome: A very rare syndrome characterized mainly by a small head, underdeveloped genitalia and a protrusion of the area between the eyes (glabella).

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

MacDermot-Winter syndrome: Introduction

Types of MacDermot-Winter syndrome:

Broader types of MacDermot-Winter syndrome:

How serious is MacDermot-Winter syndrome?

Prognosis of MacDermot-Winter syndrome: death occurs within the first year
Complications of MacDermot-Winter syndrome: see complications of MacDermot-Winter syndrome

What causes MacDermot-Winter syndrome?

Causes of MacDermot-Winter syndrome: see causes of MacDermot-Winter syndrome

What are the symptoms of MacDermot-Winter syndrome?

Symptoms of MacDermot-Winter syndrome: see symptoms of MacDermot-Winter syndrome

Complications of MacDermot-Winter syndrome: see complications of MacDermot-Winter syndrome

MacDermot-Winter syndrome: Testing

Diagnostic testing: see tests for MacDermot-Winter syndrome.

Misdiagnosis: see misdiagnosis and MacDermot-Winter syndrome.

How is it treated?

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

Name and Aliases of MacDermot-Winter syndrome

Main name of condition: MacDermot-Winter syndrome

Other names or spellings for MacDermot-Winter syndrome:

prominent glabella [microcephaly - hypogenitalism], Prominent glabella microcephaly hypogenitalism

Prominent glabella microcephaly hypogenitalism, Prominent glabella microcephaly hypogenitalism
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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