Ellis-van Creveld syndrome
Ellis-van Creveld syndrome: Introduction
Symptoms of Ellis-van Creveld syndrome
See full list of 33
symptoms of Ellis-van Creveld syndrome
Home Diagnostic Testing
Home medical testing related to Ellis-van Creveld syndrome:
- Child Behavior: Home Testing
- Child General Health: Home Testing
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...read 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...read 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...read 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 can be fatal.
It should be considered for...read 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 a heart attack,
whereas...read more »
Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the
more feared conditions for a child with abdominal pain, it can be over-diagnosed
(it...read more »
Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue
with hyperension, arises in relation to the simple equipment used to test blood pressure.
The "cuff"...read 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...read more »
Hypertension misdiagnosis common in children: Hypertension is often
misdiagnosed in adults (see misdiagnosis of hypertension), but its...read more »
Read more about Misdiagnosis and Ellis-van Creveld syndrome
Ellis-van Creveld syndrome: Research Doctors & Specialists
Research related physicians and medical specialists:
- Bone, Joint and Orthopedic Specialists:
- Cholesterol Specialists:
- Cardiac (Heart) Specialists:
- Ear, Nose & Throat Specialists:
- Child Health Specialists (Pediatrics):
- more specialists...»
Other doctor, physician and specialist research services:
Hospitals & Clinics: Ellis-van Creveld syndrome
Research quality ratings and patient safety measures
for medical facilities in specialties related to Ellis-van Creveld syndrome:
Hospital & Clinic quality ratings »
Choosing the Best Hospital:
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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
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Research about Ellis-van Creveld syndrome
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Statistics for Ellis-van Creveld syndrome
Ellis-van Creveld syndrome: Broader Related Topics
Types of Ellis-van Creveld syndrome
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
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