Topics: Conditions and Diseases : Rare Disorders
This area contains many subcategories of uncommon types of disorders.
Agnosia
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.
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Aicardi Syndrome
Aicardi syndrome is a very rare neurological condition due to a congenital abnormality of brain development.
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Alström Syndrome
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.
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Barth Syndrome
Barth Syndrome is a rare but serious genetic disorder that affects males.
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Cerebrocostomandibular Syndrome
Mental retardation associated mainly with costovertebral malformations and orofacial defects. Mental defect may not be inherent but rather a consequence of neonatal respiratory distress.
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Cleidocranial Dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia. Affected individuals have hypoplastic/aplastic clavicles and multiple dental abnormalities.
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Cystinosis
Cystinosis is a rare genetic disease affecting both children and adults.
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Degos
Degos Disease is a rare systemic disorder that affects small and medium sized arteries, causing them to become blocked (occlusive arteriopathy).
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Erythromelalgia
Disease marked by paroxysmal, bilateral vasodilatation, particularly of the extremities, with burning pain, and increased skin temperature and redness.
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Jacobsen Syndrome
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.
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Melorheostosis
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.
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Moyamoya
Moyamoya Disease is a progressive disease that affects the blood vessels in the brain (cerebrovascular).
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Pemphigus
Pemphigus of the skin and mucous membranes is a chronic blistering disease most commonly found in middle-aged persons.
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Phenylketonuria
Phenylketonuria (PKU) is a genetic disorder that ischaracterized by an inability of the body to utilize the
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Pierre Robin Syndrome
Characterized by a combination of three features, possibly due to the underdevelopment of the lower jaw.
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Progeria
Progeria is a rare genetic condition characterized by an appearance of accelerated aging in children.
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Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome is a rare genetic multisystem disorder that affects many organ systems of the body.
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Triploidy
Informational sites about triploidy, a chromosomal abnormality.
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Tyrosinemia
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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VACTERL Association
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.
Personal Pages,
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Wegener's Granulomatosis
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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