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What is Jequier-Kozlowski-skeletal dysplasia?

What is Jequier-Kozlowski-skeletal dysplasia?

  • Jequier-Kozlowski-skeletal dysplasia: A very rare syndrome characterized mainly by various skeletal abnormalities and facial anomalies.

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

Jequier-Kozlowski-skeletal dysplasia: Introduction

Types of Jequier-Kozlowski-skeletal dysplasia:

Broader types of Jequier-Kozlowski-skeletal dysplasia:

What causes Jequier-Kozlowski-skeletal dysplasia?

Causes of Jequier-Kozlowski-skeletal dysplasia: see causes of Jequier-Kozlowski-skeletal dysplasia

What are the symptoms of Jequier-Kozlowski-skeletal dysplasia?

Symptoms of Jequier-Kozlowski-skeletal dysplasia: see symptoms of Jequier-Kozlowski-skeletal dysplasia

How is it treated?

Doctors and Medical Specialists for Jequier-Kozlowski-skeletal dysplasia: Neonatologist ; see also doctors and medical specialists for Jequier-Kozlowski-skeletal dysplasia.
Treatments for Jequier-Kozlowski-skeletal dysplasia: see treatments for Jequier-Kozlowski-skeletal dysplasia

Name and Aliases of Jequier-Kozlowski-skeletal dysplasia

Main name of condition: Jequier-Kozlowski-skeletal dysplasia

Other names or spellings for Jequier-Kozlowski-skeletal dysplasia:

Jequier-Koslowski syndrome, skeletal dysplasia, Jequier-Koslowski type, dysmorphism [arthrogryposis - skeletal maturation, advanced], Facies unusual arthrogryposis advanced skeletal maturation, Round face, short small nose, advanced bone age, enlarged diaphysis, Cloverleaf skull and bone dysplasias

Cloverleaf skull and bone dysplasias, Facies unusual arthrogryposis advanced skeletal maturation, Round face, short small nose, advanced bone age, enlarged diaphysis
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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