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What is Chondrodysplasia punctata, non rhizomelic type?

What is Chondrodysplasia punctata, non rhizomelic type?

  • Chondrodysplasia punctata, non rhizomelic type: A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The non-rhizomelic forms tend to be milder, with minimal or no upper limb shortening. The Joints in the ends of the arms and legs tend to be more affected. Some of the specific disorders in this group are Conradi-Hunermann disease, Happle's chondrodysplasia and brachytelephalagnic chondrodysplasia punctata. The range of symptoms and severity may vary between disorders.

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Chondrodysplasia punctata, non rhizomelic type as a "rare disease".
Source - Orphanet

Chondrodysplasia punctata, non rhizomelic type: Introduction

Types of Chondrodysplasia punctata, non rhizomelic type:

Broader types of Chondrodysplasia punctata, non rhizomelic type:

What causes Chondrodysplasia punctata, non rhizomelic type?

Causes of Chondrodysplasia punctata, non rhizomelic type: see causes of Chondrodysplasia punctata, non rhizomelic type

What are the symptoms of Chondrodysplasia punctata, non rhizomelic type?

Symptoms of Chondrodysplasia punctata, non rhizomelic type: see symptoms of Chondrodysplasia punctata, non rhizomelic type

Chondrodysplasia punctata, non rhizomelic type: Testing

Diagnostic testing: see tests for Chondrodysplasia punctata, non rhizomelic type.

Misdiagnosis: see misdiagnosis and Chondrodysplasia punctata, non rhizomelic type.

How is it treated?

Doctors and Medical Specialists for Chondrodysplasia punctata, non rhizomelic type: Neonatologist ; see also doctors and medical specialists for Chondrodysplasia punctata, non rhizomelic type.
Treatments for Chondrodysplasia punctata, non rhizomelic type: see treatments for Chondrodysplasia punctata, non rhizomelic type

Name of Chondrodysplasia punctata, non rhizomelic type

Main name of condition: Chondrodysplasia punctata, non rhizomelic type

 

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