Diseases
Testotoxicosis
Puberty is the process of physical maturation manifested by an increase in growth rate and the appearance of secondary sexual characteristics. Precocious puberty is typically defined as the appearance of any sign of secondary sexual maturation in boys younger than 9 years, in white girls younger than 7 years, and in black girls younger than 6 years.
source: eMedicine
Testotoxicosis is also named : Precocious puberty, male limited; Sexual precocity, familial, gonadotropin-independent; Pubertas Praecox; Familial Testotoxicosis (subtype).
Tetanus
Tetanus is an infection characterized by muscle spasms. In the most common type the spasms begin in the jaw and then progress to the rest of the body. These spasms usually last a few minutes each time and occur frequently for three to four weeks. Spasms may be so severe that bone fractures may occur. Other symptoms may include: fever, sweating, headache, trouble swallowing, high blood pressure, and a fast heart rate. Onset of symptoms is typically three to twenty one days following infection. It may take months to recover. About 10% of those infected die.
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities
A rare disorder involving tear duct abnormalities, missing arms and legs, retarded development and an unusual facial appearance.
Tetra-amelia Syndrome
Tetra-Amelia Syndrome is a very rare disorder characterized by the absence of all four limbs.
Tetra-amelia with pulmonary hypoplasia
Tetraamelia with pulmonary hypoplasia: A very rare syndrome characterized mainly by the absence of arms and legs and abnormal lung development.
Tetraamelia multiple malformations
Tetraamelia - multiple malformations: A very rare syndrome characterized mainly by a lack of arm and leg bones (hands and feet are still present) as well as other malformations.
Tetrahydrobiopterin deficiencies
Tetrahydrobiopterin deficiency (also known as BH4 deficiency) is a rare disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained through the diet. It is found in all proteins and in some artificial sweeteners. If tetrahydrobiopterin deficiency is not treated, excess phenylalanine can build up to harmful levels in the body, causing mental retardation and other serious health problems. High levels of phenylalanine are present from infancy in people with untreated tetrahydrobiopterin deficiency. The resulting signs and symptoms range from mild to severe. Mild complications may include temporary low muscle tone. Severe complications include mental retardation, movement disorders, difficulty swallowing, seizures, behavioral problems, progressive problems with development, and an inability to control body temperature.
Tetralogy of fallot and glaucoma
Tetraploidy
Tetraploidy: A very rare chromosomal disorder which results in various abnormalities. Infants are usually stillborn or die within months of birth.
Tetrasomy X
A rare chromosomal disorder which causes mental retardation, small head and various other anomalies.
Thakker Donnai syndrome
Thakker-Donnai syndrome: A very rare, severe genetic syndrome characterized by abnormal internal organs and facial anomalies.
Thalamic degeneration symmetrical infantile
Thalamic degeneration- symmetric infantile
A very rare brain disorder characterized by abnormal brain development, seizures, respiratory distress and movement disorders.
Thalamic syndrome
Thalamic syndrome (or thalamic pain syndrome) is a condition that can be associated with inadequate blood supply from the posterior cerebral artery.Thalamic Syndrome (Dejerine-Roussy) is a rare neurological disorder in which the body becomes hypersensitive to pain as a result of damage to the thalamus, a part of the brain that affects sensation. The thalamus has been described as the brain’s sensory relay station. Primary symptoms are pain and loss of sensation, usually in the face, arms, and/or legs. Pain or discomfort may be felt after being mildly touched or even in the absence of a stimulus. The pain associated with thalamic syndrome may be made worse by exposure to heat or cold and by emotional distress. Sometimes, this may include even such emotions as those brought on by listening to music.
Thanatophoric dysplasia Glasgow variant
Thanatophoric dysplasia, Glasgow variant: A lethal form of dwarfism.
Thanatophoric dysplasia- type 1
Thanatophoric dysplasia, type 1: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge.
Thanatophoric dysplasia- type 2
Thanatophoric dysplasia, type 2: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge
Thanos Stewart Zonana syndrome
Theodor Hertz Goodman syndrome
A very rare syndrome characterized mainly by short stature, fused finger bones and extra testes.
Thiamine responsive megaloblastic anemia syndrome
A rare genetic disorder characterized by megaloblastic anemia, hearing loss and diabetes. The condition is caused by a deficiency of a thiamine (vitamin B1) transporter protein which means that the body is unable to effectively utilize thiamine from the diet.
Thickened earlobes with conductive deafness from incus-stapes abnormalities
A very rare syndrome characterized by thick earlobes and conductive deafness due to an inner ear structure abnormality. The deafness is non-progressive and occurs at birth.
Thies Reis syndrome
A rare condition characterized by hearing loss caused by fixation of stapes (ear bone which causes conductive deafness if it becomes fixed and immovable). It can occur as a result of various bone diseases or even chronic ear infections
Thin ribs tubular bones dysmorphism
A very rare syndrome characterized mainly by thin ribs, narrow-shafted long bones and a large head.
Thiolase deficiency
A rare syndrome involving a deficiency of an enzyme called thiolase which results in mental retardation and muscle problems.
Thiopurine S methyltranferase deficiency
Thiopurine methyltransferase or thiopurine S-methyltransferase (TPMT) is an enzyme (EC 2.1.1.67) that methylates thiopurine compounds. The methyl donor is S-adenosyl-L-methionine, which is converted to S-adenosyl-L-homocysteine. This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals. A pseudogene for this locus is located on chromosome 18q
Thomas Jewett Raines syndrome
A very rare syndrome characterized mainly by small eyes, small ears and a lack of fetal movement.
Thomas syndrome
Another name for Dejerine-Sottas disease (or close medical condition association). An inherited, progressive, hypertrophic nervous system disorder which affects limb function
Thompson Baraitser syndrome
A very rare syndrome characterized mainly by liver fibrosis, kidney cysts and mental retardation.
Thong Douglas Ferrante syndrome
A very rare syndrome characterized mainly by short stature, deafness and a blood abnormality.
