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Diseases » Carpenter syndrome » Summary

What is Carpenter syndrome?

What is Carpenter syndrome?

  • Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Carpenter syndrome: Craniosynostosis with craniofacial dysmorphism, finger and toe abnormalities, heart defects, growth retardation, and other disorders.
    Source - Diseases Database

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

Carpenter syndrome: Introduction

Types of Carpenter syndrome:

Broader types of Carpenter syndrome:

How serious is Carpenter syndrome?

Complications of Carpenter syndrome: see complications of Carpenter syndrome

What causes Carpenter syndrome?

Causes of Carpenter syndrome: see causes of Carpenter syndrome

What are the symptoms of Carpenter syndrome?

Symptoms of Carpenter syndrome: see symptoms of Carpenter syndrome

Complications of Carpenter syndrome: see complications of Carpenter syndrome

Can anyone else get Carpenter syndrome?

More information: see contagiousness of Carpenter syndrome
Inheritance: see inheritance of Carpenter syndrome

Carpenter syndrome: Testing

Misdiagnosis: see misdiagnosis and Carpenter syndrome.

How is it treated?

Doctors and Medical Specialists for Carpenter syndrome: Medical Geneticist ; see also doctors and medical specialists for Carpenter syndrome.
Treatments for Carpenter syndrome: see treatments for Carpenter syndrome
Research for Carpenter syndrome: see research for Carpenter syndrome

Name and Aliases of Carpenter syndrome

Main name of condition: Carpenter syndrome

Other names or spellings for Carpenter syndrome:

Acrocephalopolysyndactyly type 2, ACPS 2

Goodman syndrome, Summitt syndrome, Acrocephalopolysyndactyly type 2 Source - Diseases Database

ACPS 2, Acrocephalopolysyndactyly type 2
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Carpenter syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Carpenter syndrome:


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