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...

Tangier Disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high-density lipoproteins (sometimes called "good cholesterol"). Large amounts of these compounds may accumulate in certain orga...

Black hairy tongue is a harmless condition in which the tongue appears dark and hairy due to an overgrowth of bacteria or yeast on the tongue's surface. This can be caused by poor oral hygiene, smoking, certain medications, or consuming certain fo...

Pinta is a rare infectious tropical disease affecting the skin that is caused by the bacterium Treponema carateum, which is transmitted by direct, nonsexual contact. Pinta progresses through three distinct stages, which are characterized by variou...

Dental fluorosis is a condition that affects the teeth due to overexposure to fluoride during the early years of life. It can cause white or brown spots, streaks, or pits on the teeth, and in severe cases, it can lead to enamel erosion and discolo...

Dental tartar, also known as dental calculus, is a hard, yellowish or brownish deposit that forms on the teeth when plaque hardens. Plaque is a sticky film of bacteria that forms on the teeth when sugars and starches in food interact with the bact...

Diabetes and foot problems facts Two main conditions, peripheral artery disease (PAD) and peripheral neuropathy, are responsible for the increased risk of foot problems in people with diabetes. People with diabetes have an...

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin inf...

Pinta is a rare infectious tropical disease affecting the skin that is caused by the bacterium Treponema carateum, which is transmitted by direct, nonsexual contact. Pinta progresses through three distinct stages, which are characterized by variou...

Enamel hypoplasia is a developmental defect of the teeth in which the enamel does not form properly, resulting in thin or missing enamel on the teeth. This can lead to increased sensitivity, discoloration, and an increased risk of tooth decay. Ena...

Tuberous sclerosis is a rare genetic multisystem disorder that is typically apparent shortly after birth. The disorder may be characterized by episodes of uncontrolled electrical activity in the brain (seizures); mental retardation; distinctive sk...

Gangrene facts Gangrene refers to dead or dying body tissue(s) that occur because of inadequate blood supply. There are two major types of gangrene, wet gangrene and dry gangrene. Dry gangrene can result from con...

Fabry disease is a rare genetic disorder of fat (lipid) metabolism characterized by a deficiency of the enzyme alpha-galactosidase A (previously known as ceramide trihexosidase). The disorder belongs to a group of diseases known as lysosomal stora...

A hematoma is a collection of blood outside of a blood vessel. Symptoms of hematomas depend upon their location and whether adjacent structures are affected by the inflammation and swelling associated with the bleeding. Tr...

Apnea is a term used to describe the temporary absence of spontaneous breathing. Infantile apnea occurs in children under the age of one year. Apnea may occur because of neurological impairment of the respiratory rhythm or obstruction of air flow ...

Mulibrey nanism is an extremely rare autosomal recessive genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and...

Tethered cord syndrome is a stretch-induced functional disorder associated with the fixation (tethering) effect of inelastic tissue on the caudal spinal cord, limiting its movement. This abnormal attachment is associated with progressive stretchin...

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...

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...

Rothmund-Thomson syndrome (RTS) is a rare genetic disorder that can affect many parts of the body. The disorder is characterized by distinctive abnormalities of the skin, sparse hair, eyelashes and/or eyebrows, small stature, skeletal and dental a...

Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth retardation and postnatal growth deficiency along with a handful of common physical characteristics and a range of other symptoms. The wide spectrum of phenotype...

Stretch mark facts The medical name for stretch marks is striae distensae. Stretch marks are very common. Stretch marks rarely are a sign of a significant medical problem. Stretch marks are generally pa...

Tinea versicolor is a common fungal infection of the skin. The fungus interferes with the normal pigmentation of the skin, resulting in small, discolored patches. These patches may be lighter or darker in color than the surrounding skin and most c...

Tooth discoloration is when the color of the teeth changes from their natural shade to a different color, typically yellow, brown, or gray. This can be caused by a variety of factors, including: 1. Poor oral hygiene: Not brushing and ...

Tooth erosion is the gradual wearing away of the enamel on the surface of the teeth. Enamel is the hard outer layer that protects the teeth from decay and damage. When the enamel is eroded, it can expose the underlying dentin, which is softer and ...

General DiscussionRomano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart. The severity of Romano-Ward syndrome varies greatly from case to case. Some indiv...