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What is McKusick-Kaufman syndrome?

What is McKusick-Kaufman syndrome?

  • McKusick-Kaufman syndrome: A rare genetic disorder characterized by hydrometrocolpos (fluid buildup in vagina and uterus), extra fingers and congenital heart defects.

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

McKusick-Kaufman syndrome: Introduction

Types of McKusick-Kaufman syndrome:

Broader types of McKusick-Kaufman syndrome:

How serious is McKusick-Kaufman syndrome?

Complications of McKusick-Kaufman syndrome: see complications of McKusick-Kaufman syndrome

What causes McKusick-Kaufman syndrome?

Causes of McKusick-Kaufman syndrome: see causes of McKusick-Kaufman syndrome

What are the symptoms of McKusick-Kaufman syndrome?

Symptoms of McKusick-Kaufman syndrome: see symptoms of McKusick-Kaufman syndrome

Complications of McKusick-Kaufman syndrome: see complications of McKusick-Kaufman syndrome

Onset of McKusick-Kaufman syndrome: newborn

McKusick-Kaufman syndrome: Testing

Diagnostic testing: see tests for McKusick-Kaufman syndrome.

Misdiagnosis: see misdiagnosis and McKusick-Kaufman syndrome.

How is it treated?

Doctors and Medical Specialists for McKusick-Kaufman syndrome: Medical Geneticist ; see also doctors and medical specialists for McKusick-Kaufman syndrome.
Treatments for McKusick-Kaufman syndrome: see treatments for McKusick-Kaufman syndrome
Research for McKusick-Kaufman syndrome: see research for McKusick-Kaufman syndrome

Name and Aliases of McKusick-Kaufman syndrome

Main name of condition: McKusick-Kaufman syndrome

Other names or spellings for McKusick-Kaufman syndrome:

hydrometrocolpos-postaxial polydactyly-congenital heart malformations, Kaufman McKusick syndrome, MKKS, Hydrometrocolpos syndrome, Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation, HMCS, Hydrometrocolpos, postaxial polydactyly

HMCS, Hydrometrocolpos syndrome, Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation, Kaufman McKusick syndrome, MKKS
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

McKusick-Kaufman syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, McKusick-Kaufman syndrome:

 

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