Chondroectodermal dysplasia: A rare genetic disorder characterized by dwarfism, extra fingers and/or toes and nail and hair abnormalities. More detailed information about the symptoms, causes, and treatments of Chondroectodermal dysplasia is available below.
See full list of 33 symptoms of Chondroectodermal dysplasia
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See full list of 9 occasional symptoms of Chondroectodermal dysplasia
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Types of Chondroectodermal dysplasia
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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)
Chondroectodermal dysplasia is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Chondroectodermal dysplasia, or a subtype of Chondroectodermal dysplasia,
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 Chondroectodermal dysplasia as a "rare disease".
Source - Orphanet
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