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What is Michels-Caskey syndrome?

What is Michels-Caskey syndrome?

  • Michels-Caskey syndrome: A very rare disorder characterized by underdeveloped thumbs, spine deformities and lack of development of the female reproductive organs such as the uterus and vagina (mullerian duct aplasia). The external genitalia may appear to be normal.

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

Michels-Caskey syndrome: Introduction

Types of Michels-Caskey syndrome:

Broader types of Michels-Caskey syndrome:

What causes Michels-Caskey syndrome?

Causes of Michels-Caskey syndrome: see causes of Michels-Caskey syndrome

What are the symptoms of Michels-Caskey syndrome?

Symptoms of Michels-Caskey syndrome: see symptoms of Michels-Caskey syndrome

Michels-Caskey syndrome: Testing

Diagnostic testing: see tests for Michels-Caskey syndrome.

Misdiagnosis: see misdiagnosis and Michels-Caskey syndrome.

How is it treated?

Doctors and Medical Specialists for Michels-Caskey syndrome: Neonatologist ; see also doctors and medical specialists for Michels-Caskey syndrome.
Treatments for Michels-Caskey syndrome: see treatments for Michels-Caskey syndrome

Name and Aliases of Michels-Caskey syndrome

Main name of condition: Michels-Caskey syndrome

Other names or spellings for Michels-Caskey syndrome:

Mullerian aplasia with hypoplastic thumbs, Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities

Mullerian aplasia with hypoplastic thumbs, Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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