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Research the causes of these diseases that are similar to, or related to, Ellis-van Creveld syndrome:
Commonly undiagnosed diseases in related medical categories:
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...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 altogether too common for people to die from undiagnosed heart attack, or from...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 actually have something milder. Some of...read more »
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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 there are...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 can, of course,...read more »
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Hypertension misdiagnosis common in children: Hypertension is often misdiagnosed in adults (see misdiagnosis of hypertension), but its misdiagnosis is even more likely in children. Some of the symptoms of hypertension...read more »
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Types of Ellis-van Creveld syndrome
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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)
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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