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Top: Health: Conditions_and_Diseases: Rare_Disorders
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Please check to see if your site is better suited to one of the sub-categories before submitting. Sites submitted to this area must be in English, if not please submit to a proper World category instead. Sites selling products should be submitted to a Shopping category. |
This area contains many subcategories of uncommon types of disorders.
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Please submit sites about agnosia to this area. Sites must be in English. If they are not, please submit to a proper World category instead. |
Agnosia (a-gnosis, "non-knowledge") is a loss of ability to recognize objects, persons, sounds, shapes or smells while the specific sense is not defective nor is there any significant memory loss. It is usually associated with brain injury or neurological illness, particularly after damage to the temporal lobe.
Aicardi syndrome is a very rare neurological condition due to a congenital abnormality of brain development.
A rare disorder inherited as an autosomal recessive genetic trait. Characteristic features of this disorder include progressive loss of vision and hearing beginning in early childhood, diabetes mellitus, and obesity.
Barth Syndrome is a rare but serious genetic disorder that affects males.
Mental retardation associated mainly with costovertebral malformations and orofacial defects. Mental defect may not be inherent but rather a consequence of neonatal respiratory distress.
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia. Affected individuals have hypoplastic/aplastic clavicles and multiple dental abnormalities.
Cystinosis is a rare genetic disease affecting both children and adults.
Degos Disease is a rare systemic disorder that affects small and medium sized arteries, causing them to become blocked (occlusive arteriopathy).
Disease marked by paroxysmal, bilateral vasodilatation, particularly of the extremities, with burning pain, and increased skin temperature and redness.
Jacobsen Syndrome (11q Deletion, or 11q-) is a rare chromosomal abnormality which affects perhaps one child in 100,000 in which a portion of the 11th chromosome is missing. It was discovered by Dr. P. Jacobsen in 1973. At that time, the disease was named "Jacobsen Syndrome."
A rare disorder which affects both bone and soft tissues. While the disorder is benign, it can result in severe functional limitations, extensive pain, and significant deformity.
Moyamoya Disease is a progressive disease that affects the blood vessels in the brain (cerebrovascular). It is characterized by narrowing and/or closing of the main artery to the brain (carotid).
Pemphigus of the skin and mucous membranes is a chronic blistering disease most commonly found in middle-aged persons.
Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
Characterized by a combination of three features, possibly due to the underdevelopment of the lower jaw. The lower jaw is abnormally small (micrognathia), the tongue is displaced downwards (glossoptosis), and there is an abnormal opening in the roof of the mouth (cleft soft palate).
Progeria is a rare genetic condition characterized by an appearance of accelerated aging in children. Its name is derived from the Greek and means "prematurely old." The classic type is the Hutchinson-Gilford Progeria Syndrome which was first described in England in 1886 by Dr. Jonathan Hutchinson and again in 1886 and 1904 by Dr. Hastings Gilford.
Rubinstein-Taybi syndrome is a rare genetic multisystem disorder that affects many organ systems of the body.
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Informational sites about triploidy, a chromosomal abnormality. Include support groups and organizations. more information (editors only) |
Informational sites about triploidy, a chromosomal abnormality.
A rare genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed to break down the amino acid tyrosine.
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Please only submit sites detailing information relating to VACTERL or VATER as a whole, sites dealing solely with specific defects like cardio defects or TOF should be submitted to their respective category. more information (editors only) |
VACTERL Association is a sporadic, non-random association of specific birth defects. The word VACTERL is an acronym, where each letter of the word relates to an area of abnormalities. Formally known as VATER Syndrome, this condition is now generally termed as VACTERL due to the addition of other areas of defects known to be connected with the condition.
An uncommon disease, characterized by inflammation of the blood vessels (vasculitis). Wegener's granulomatosis primarily affects the respiratory tract and the kidneys.
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