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What is Trichorhinophalangeal syndrome type 1?

What is Trichorhinophalangeal syndrome type 1?

  • Trichorhinophalangeal syndrome type 1: A rare genetic disorder characterized by bulbous nose, sparse hair and coning of epiphyses.
  • Trichorhinophalangeal syndrome type 1: Cone-shaped epiphyses, sparse hypopigmented hair, bulbous nose, variable growth retardation, and occasional mental retardation.
    Source - Diseases Database

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

Trichorhinophalangeal syndrome type 1: Introduction

Types of Trichorhinophalangeal syndrome type 1:

Broader types of Trichorhinophalangeal syndrome type 1:

How serious is Trichorhinophalangeal syndrome type 1?

Complications of Trichorhinophalangeal syndrome type 1: see complications of Trichorhinophalangeal syndrome type 1

What causes Trichorhinophalangeal syndrome type 1?

Causes of Trichorhinophalangeal syndrome type 1: see causes of Trichorhinophalangeal syndrome type 1

What are the symptoms of Trichorhinophalangeal syndrome type 1?

Symptoms of Trichorhinophalangeal syndrome type 1: see symptoms of Trichorhinophalangeal syndrome type 1

Complications of Trichorhinophalangeal syndrome type 1: see complications of Trichorhinophalangeal syndrome type 1

Can anyone else get Trichorhinophalangeal syndrome type 1?

More information: see contagiousness of Trichorhinophalangeal syndrome type 1
Inheritance: see inheritance of Trichorhinophalangeal syndrome type 1

Trichorhinophalangeal syndrome type 1: Testing

Diagnostic testing: see tests for Trichorhinophalangeal syndrome type 1.

Misdiagnosis: see misdiagnosis and Trichorhinophalangeal syndrome type 1.

How is it treated?

Doctors and Medical Specialists for Trichorhinophalangeal syndrome type 1: Medical Geneticist ; see also doctors and medical specialists for Trichorhinophalangeal syndrome type 1.
Treatments for Trichorhinophalangeal syndrome type 1: see treatments for Trichorhinophalangeal syndrome type 1

Name and Aliases of Trichorhinophalangeal syndrome type 1

Main name of condition: Trichorhinophalangeal syndrome type 1

Other names or spellings for Trichorhinophalangeal syndrome type 1:

TRP I, Giedion syndrome, Trichorhinophalangeal (TRP) syndrome 1, TRPS1, Trichorhinophalangeal dysplasia 1

Giedion syndrome Source - Diseases Database

Trichorhinophalangeal syndrome type 1: Related Conditions

Research the causes of these diseases that are similar to, or related to, Trichorhinophalangeal syndrome type 1:

 

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