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What is McKusick type metaphyseal chondrodysplasia?

What is McKusick type metaphyseal chondrodysplasia?

  • McKusick type metaphyseal chondrodysplasia: A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair.

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

McKusick type metaphyseal chondrodysplasia: Introduction

Types of McKusick type metaphyseal chondrodysplasia:

Broader types of McKusick type metaphyseal chondrodysplasia:

How serious is McKusick type metaphyseal chondrodysplasia?

Complications of McKusick type metaphyseal chondrodysplasia: see complications of McKusick type metaphyseal chondrodysplasia

What causes McKusick type metaphyseal chondrodysplasia?

Causes of McKusick type metaphyseal chondrodysplasia: see causes of McKusick type metaphyseal chondrodysplasia

What are the symptoms of McKusick type metaphyseal chondrodysplasia?

Symptoms of McKusick type metaphyseal chondrodysplasia: see symptoms of McKusick type metaphyseal chondrodysplasia

Complications of McKusick type metaphyseal chondrodysplasia: see complications of McKusick type metaphyseal chondrodysplasia

McKusick type metaphyseal chondrodysplasia: Testing

Diagnostic testing: see tests for McKusick type metaphyseal chondrodysplasia.

Misdiagnosis: see misdiagnosis and McKusick type metaphyseal chondrodysplasia.

How is it treated?

Doctors and Medical Specialists for McKusick type metaphyseal chondrodysplasia: Medical Geneticist ; see also doctors and medical specialists for McKusick type metaphyseal chondrodysplasia.
Treatments for McKusick type metaphyseal chondrodysplasia: see treatments for McKusick type metaphyseal chondrodysplasia

Name and Aliases of McKusick type metaphyseal chondrodysplasia

Main name of condition: McKusick type metaphyseal chondrodysplasia

Other names or spellings for McKusick type metaphyseal chondrodysplasia:

metaphyseal dysplasia McKusick type, cartilage-hair hypoplasia syndrome

Cartilage-Hair hypoplasia Source - Diseases Database

CHH, Cartilage-hair hypoplasia, Metaphyseal chondrodysplasia, McKusick type, Short-limbed dwarfism due to skeletal dysplasia, Short-limbed dwarfism due to skeletal dysplasia, CHH, Cartilage-hair hypoplasia
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

McKusick type metaphyseal chondrodysplasia: Related Conditions

Research the causes of these diseases that are similar to, or related to, McKusick type metaphyseal chondrodysplasia:

 

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