Cayler syndrome, also known as "asymmetric crying facies with cardiac defects," is an extremely rare disorder characterized by congenital heart defects and the underdevelopment or absence of one of the muscles that control the movements of the low...

Cayler syndrome, also known as "asymmetric crying facies with cardiac defects," is an extremely rare disorder characterized by congenital heart defects and the underdevelopment or absence of one of the muscles that control the movements of the low...

Classical lissencephaly, also known as lissencephaly type I, is a brain malformation that may occur as an isolated abnormality (isolated lissencephaly sequence [ILS]) or in association with certain underlying syndromes (e.g., Miller-Dieker syndrom...

Atopic dermatitis facts Atopic dermatitis is a type of eczema. The disease may be inherited and genetically determined. The patient's skin may be "super sensitive" to many irritants. Dry, scaly patches ...

Bacterial vaginosis is an abnormal vaginal condition that is characterized by vaginal discharge and results from an overgrowth of atypical bacteria in the vagina. Bacterial vaginosis is not dangerous, but it can cause disturbing sym...

Hairy tongue is an uncommon, benign condition that is also known as black hairy tongue or lingua nigra. It is characterized by abnormal elongation and blackish or dark brownish discoloration or "staining" of the thread-like elevations (filiform pa...

Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder of childhood (usually) characterized by abnormally pale skin and eyes (oculocutaneous albinism). Because the patient's white blood cells (leukocytes) are profoundly affe...

Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder of childhood (usually) characterized by abnormally pale skin and eyes (oculocutaneous albinism). Because the patient's white blood cells (leukocytes) are profoundly affe...

Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may...

Hyperlipoproteinemia type III, also known as dysbetalipoproteinemia or broad beta disease, is a rare genetic disorder characterized by improper breakdown (metabolism) of certain fatty materials known as lipids, specifically cholesterol and triglyc...

Lamellar ichthyosis is a rare genetic skin disorder. In lamellar ichthyosis, the skin cells are produced at a normal rate, but they do not separate normally at the surface of the outermost layer of skin (stratum corneum) and are not shed as quickl...

Leukoplakia is a white or gray patch that develops on the tongue or the inside of the cheek. It is the mouth's reaction to chronic irritation of the mucous membranes of the mouth. Leukoplakia patches can also develop on the female genital area; ho...

Pineal cysts are benign (non-cancerous) fluid-filled sacs located in the region of the brain that contains the pineal gland. Small pineal cysts (.5 cm or smaller) are common occurrences, often found incidentally on routine neurological exams. Smal...

Trichomoniasis is a common sexually transmitted infection caused by a parasite. In women, trichomoniasis can cause a foul-smelling vaginal discharge, genital itching and painful urination. Men who have trichomoniasis typically have no symp...

Alopecia areata is a disorder characterized by loss of hair. Sometimes, this means simply a few bare patches on the scalp. In other cases, hair loss is more extensive. Although the exact cause is not known, this is thought to be an autoimmune diso...

Familial eosinophilic cellulitis is a rare skin disorder. It is characterized by raised, red, swollen, and warm areas of skin, in a flame-shaped pattern with associated pain. The exact cause of the disease is unknown. However, bites of spiders, be...

Werner Syndrome is a rare progressive disorder that is characterized by the appearance of unusually accelerated aging (progeria). Although the disorder is typically recognized by the third or fourth decades of life, certain characteristic findings...