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Ellis-van Creveld syndrome

Ellis-van Creveld syndrome: Introduction

Symptoms of Ellis-van Creveld syndrome

Home Diagnostic Testing

Home medical testing related to Ellis-van Creveld syndrome:

Wrongly Diagnosed with Ellis-van Creveld syndrome?

Ellis-van Creveld syndrome: Complications

Read more about complications of Ellis-van Creveld syndrome.

Causes of Ellis-van Creveld syndrome

Read more about causes of Ellis-van Creveld syndrome.

Disease Topics Related To Ellis-van Creveld syndrome

Research the causes of these diseases that are similar to, or related to, Ellis-van Creveld syndrome:

Ellis-van Creveld syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Ellis-van Creveld syndrome

Mild worm infections undiagnosed in children: Human worm infestations, esp. threadworm, can be overlooked in some cases, because it may cause only mild or even absent symptoms. Although the most more »

Heart attacks can be undiagnosed: Although the most severe symptoms of heart attack are hard to miss, there are varying degrees of severity. It is altogether too more »

Heart attacks can be overdiagnosed: Although many people die from heart attacks, there are also many cases where people fear that they have a heart attack, but actually more »

Rare heart condition often undiagnosed: The rare heart condition called long QT syndrome can lead to episodes of palpitations and rapid heartbeat. In rare cases, this undiagnosed condition more »

Heart attack can be over-diagnosed: Although heart attack is often undiagnosed, leading to fatality, it can also be over-diagnosed. People become concerned that a condition is more »

Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the more feared conditions for a child with abdominal pain, it more »

Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue with hyperension, arises in relation to the simple equipment used to more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines more »

Hypertension misdiagnosis common in children: Hypertension is often misdiagnosed in adults (see misdiagnosis of hypertension), but its misdiagnosis is even more likely more »

Ellis-van Creveld syndrome: Research Doctors & Specialists

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Hospitals & Clinics: Ellis-van Creveld syndrome

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Choosing the Best Hospital: More general information, not necessarily in relation to Ellis-van Creveld syndrome, on hospital performance and surgical care quality:

Ellis-van Creveld syndrome: Rare Types

Rare types of diseases and disorders in related medical categories:

Evidence Based Medicine Research for Ellis-van Creveld syndrome

Medical research articles related to Ellis-van Creveld syndrome include:

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Ellis-van Creveld syndrome: Animations

Research about Ellis-van Creveld syndrome

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Statistics for Ellis-van Creveld syndrome

Ellis-van Creveld syndrome: Broader Related Topics

User Interactive Forums

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Article Excerpts about Ellis-van Creveld syndrome

Ellis-van Creveld syndrome, also known as "chondroectodermal dysplasia," is a rare genetic disorder characterized by short-limb dwarfism, polydactyly (additional fingers or toes), malformation of the bones of the wrist, dystrophy of the fingernails, partial hare-lip, cardiac malformation, and often prenatal eruption of the teeth. (Source: Genes and Disease by the National Center for Biotechnology)

Definitions of Ellis-van Creveld syndrome:

Chondrodysplasia of long bones affecting mainly the distal ends of extremities and resulting in short-limb dwarfism, hexadactyly of the fingers and less frequently the toes; ectodermal dysplasia with nail and hair abnormalities, and congenital heart defects. Associated abnormalities may include cryptorchidism, epispadias, talipes equinovalgus, and Dandy-Walker syndrome (absence of cerebellar vermis, hydrocephalus, and posterior fossa cyst continuous with the fourth ventricle). Some patients are retarded. The largest pedigree was observed in Old Order Amish in Lancaster County, Pennsylvania and some cases were reported in Australian Aborigines. - (Source - Diseases Database)

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

Related Ellis-van Creveld syndrome Info

More information about Ellis-van Creveld syndrome

  1. Ellis-van Creveld syndrome: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Home Testing
  7. Types
  8. Complications

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