Takayasu Arteritis is a rare form of vasculitis characterized by inflammation that damages large and medium-sized blood vessels.

Talipes equinovarus is a rare birth defect where the foot is twisted in and down.

Intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS), is a neurodevelopmental disorder characterized by global developmental delay, v...

TAR Syndrome is a rare genetic disorder causing the absence of the radius bone in the forearm in addition to a dramatically reduced platelet count.

The spinal cord is a part of the nervous system that extends down the vertebral column. The spinal cord is divided into thirty one segments. From each segment, two sets of nerves emerge that are...

Tay-Sachs Disease is a rare genetic Lysosomal Storage Disease causing deterioration of mental and physical abilities.

Temporal Lobe Epilepsy a neurological disorder characterized by recurrent seizures.

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Tethered Spinal Cord Syndrome is a rare disorder caused by tissue attachments, limiting the movement of the spinal cord within the spinal column.

Tetralogy of Fallot (ToF) is a rare birth defect that affects the normal flow of blood through a baby’s heart, caused by abnormal development of the heart during pregnancy. There...

Tetrasomy 18p is a rare genetic disorder caused by the addition of an isochromosome of the short arm of chromosome 18.

Thalassemia is a rare inherited disorder characterized by a reduced rate of synthesis of one of the globin chains that make up hemoglobin.

Thanatophoric Dwarfism is a rare disorder resulting from a defect in the fibroblast growth factor-3 gene.

Thyrotoxic Periodic Paralysis is a rare disorder characterized by abrupt onset of hypokalemia and paralysis.

TNF Receptor Associated Periodic Syndrome (TRAPS) is a rare disorder characterized by periods of fever and chills along with abdominal pain, nausea and vomiting, appendicitis-like bowel obstruction...

Tolosa-Hunt Syndrome is a rare disorder characterized by headaches, along with weakness and paralysis of particular eye muscles.

Toriello-Carey Syndrome is a rare disorder affecting around 40 people. It is a genetic disorder that causes mutation of the cells in the center of the body.

Tourette Syndrome is an genetic neuropsychiatric disorder characterized by multiple physical tics and at least one vocal tic.

Townes-Brocks Syndrome is a rare genetic disorder characterized by a mutation of the gene SALL1.

Toxic shock syndrome is a rare disorder caused by a variety of bacterial toxins.

Tracheoesophageal Fistula is an abnormal connection between the esophagus and the trachea.

Congenital tracheomalacia refers to a structural abnormality of the central airway, trachea, that is present at birth. The trachea or windpipe is a cartilaginous tube that connects the nose and ...

Transverse Myelitis is a neurological disorder causing axonal demyelination.

Treacher Collins Syndrome is a rare genetic disorder causing craniofacial deformities.

Tricho-Hepato-Enteric Syndrome (THE) is a rare congenital bowel disorder characterized by intractable diarrhea in infants with intrauterine growth retardation, hair and facial abnormalities.

Trichorhinophalangeal Syndrome Type 1 is a rare inherited multisystem disorder characterized by unusual facial features and abnormalities of the epiphyses of the bones in the hands and feet.

Tricuspid Atresia is a congenital heart defect of the tricuspid valve that limits blood flow to the ventricle and to and from the lungs. People born with it are sometimes called "blue babies" becau...

Trigeminal Neuralgia is a disorder of the trigeminal nerve that causes periods of intense pain in the eyes, lips, nose, scalp, forehead, and jaw.

Trimethylaminuria (TMAU) is a rare metabolic disorder characterized by a strong body odor that resembles the smell of rotting fish.  Trimethylamine (TMA) is a chemical with a stro...

Triple A Syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima.

Triple X Syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female.

Trismus-Pseudocamptodactyly Syndrome is a rare genetic disorder characterized by the inability to completely open the mouth and abnormally short muscle-tendon units in the fingers.

Duplication of all or part of Chromosome 11, with or without a translocation of the duplicated material onto another chromosome. Individuals with chromosome disorders often have developmental delay...

Tisomy 13 is caused by an additional chromosome 13 which disrupts the normal course of development.

Trisomy 18 is a rare genetic disorder caused by the presence of all or part of an extra 18th chromosome.

Trisomy 2 Mosaicism is a rare chromosomal disorder where duplication of a portion of chromosome 2 causes various abnormalities.

Trisomy 8 Mosaicism is a rare chromosomal disorder characterized by three copies of chromosome 8.

Trisomy 9 is a rare chromosomal disorder characterized by three copies of chromosome number 9. It can appear with or without mosaicism.

Trisomy 9q32 is a rare genetic disorder where duplication of a portion of chromosome 9 causes various abnormalities such as short stature, mental retardation and facial anomalies.

Tritanopia is a rare disorder characterized by the total absence of blue retinal receptors.

Tuberculosis is a deadly infectious disease caused by the bacterium Mycobacterium tuberculosis.

Tuberculous Meningitis is an infection of the central nervous system.

Tuberous sclerosis is a genetic condition characterized by benign tumors in different organs and organ systems. The name “tuberous sclerosis” refers to “tuber” or nodules...

Tubular Aggregate Myopathy is a rare primary myopathy. The commonest form mainly affects middle aged males and is not inherited. Other forms affect both sexes and may be inherited.

Tumoral Calcinosis is a rare disorder resulting in the calcification of nodules in soft tissue around joints. As the nodules become larger they can cause pain.

Turner Syndrome is a rare disorder affecting females in which all or part of one of the X chromosomes is missing.