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What is Trichorhinophalangeal syndrome type 2?

What is Trichorhinophalangeal syndrome type 2?

  • Trichorhinophalangeal syndrome type 2: A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy.
  • Trichorhinophalangeal syndrome type 2: Multiple exostoses with cone-shaped epiphyses, peculiar facies (mainly microcephaly, bulbous nose with thick septum and alae, and sparse hair), loose redundant skin, and 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 2 as a "rare disease".
Source - Orphanet

Trichorhinophalangeal syndrome type 2: Introduction

Types of Trichorhinophalangeal syndrome type 2:

Broader types of Trichorhinophalangeal syndrome type 2:

How serious is Trichorhinophalangeal syndrome type 2?

Complications of Trichorhinophalangeal syndrome type 2: see complications of Trichorhinophalangeal syndrome type 2

What causes Trichorhinophalangeal syndrome type 2?

Causes of Trichorhinophalangeal syndrome type 2: see causes of Trichorhinophalangeal syndrome type 2

What are the symptoms of Trichorhinophalangeal syndrome type 2?

Symptoms of Trichorhinophalangeal syndrome type 2: see symptoms of Trichorhinophalangeal syndrome type 2

Complications of Trichorhinophalangeal syndrome type 2: see complications of Trichorhinophalangeal syndrome type 2

Can anyone else get Trichorhinophalangeal syndrome type 2?

More information: see contagiousness of Trichorhinophalangeal syndrome type 2
Inheritance: see inheritance of Trichorhinophalangeal syndrome type 2

Trichorhinophalangeal syndrome type 2: Testing

Diagnostic testing: see tests for Trichorhinophalangeal syndrome type 2.

Misdiagnosis: see misdiagnosis and Trichorhinophalangeal syndrome type 2.

How is it treated?

Doctors and Medical Specialists for Trichorhinophalangeal syndrome type 2: Medical Geneticist ; see also doctors and medical specialists for Trichorhinophalangeal syndrome type 2.
Treatments for Trichorhinophalangeal syndrome type 2: see treatments for Trichorhinophalangeal syndrome type 2

Name and Aliases of Trichorhinophalangeal syndrome type 2

Main name of condition: Trichorhinophalangeal syndrome type 2

Other names or spellings for Trichorhinophalangeal syndrome type 2:

Langer-Giedion syndrome, trichorhinophalangeal dysplasia 2, acrodysplasia-dysostoses syndrome, multiple exostoses-mental retardation syndrome, trichorhino-auriculophalangeal multiple exostoses dysplasia, TRPS 2, LGS

Langer-Giedion syndrome Source - Diseases Database

Trichorhinophalangeal syndrome type 2: Related Conditions

Research the causes of these diseases that are similar to, or related to, Trichorhinophalangeal syndrome type 2:

 

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