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Glossary for Tunglang-Savage-Bellman syndrome

  • ABCD syndrome: A rare inherited condition characterized by albinism, deafness, a black lock of hair and intestinal abnormalities.
  • Acoustic neuroma: A benign tumor of the 8th cranial nerve which lies in the tube connecting the inner ear to the brain.
  • Athabaskan brainstem dysgenesis: A rare neurological disorder caused by abnormal brainstem development and function.
  • Autoimmune diseases: A group of disorders in which the primary cause is the an inflammatory reaction caused by the body's own immune system attacking tissues
  • Barotrauma: Damage to the lungs, ear or sinuses caused by rapid or extreme changes in air pressure.
  • Basilar artery migraine: Basilar migraine (BM), also known as Bickerstaff syndrome, consists of headache accompanied by dizziness, ataxia, tinnitus, decreased hearing, nausea and vomiting, dysarthria, diplopia, loss of balance, bilateral paresthesias or paresis, altered consciousness, syncope, and sometimes loss of consciousness.
  • Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
  • Cerebrovascular Conditions: Conditions of the brain's blood vessels including stroke.
  • Digestive Diseases: Diseases that affect the digestive system
  • Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
  • Ear and Hearing conditions: Medical conditions affecting the ears or the hearing systems.
  • Head Conditions: Conditions that affect the head
  • Head injury: An injury to the head
  • Hereditary hearing loss: Hearing loss that is inherited or passed on from parents to children as a result of a genetic defect.
  • I cell disease: A rare inherited biochemical disorder characterized by the harmful accumulation of chemicals (glycoproteins and glycoplipids) due to the deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase).
  • Injury: Any damage inflicted in the body
  • Jequier-Deonna Syndrome: A very rare condition described in two sisters. It is characterized by vision and hearing problems and incoordination.
  • Johanson-Blizzard Syndrome: A rare genetic disorder involving a range of abnormalities including a characteristic beak-like small nose, hypothyroidism and deafness.
  • Klippel Feil Syndrome: A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
  • Labrynthitis: Inner ear condition affecting various ear structures
  • Mastoiditis: Inflammation of a bone behind the ear
  • Middle ear infection: Infection of middle ear also called otitis media.
  • Mouth conditions: Any condition that affects the mouth
  • Multiple Sclerosis: Autoimmune attack on spinal nerves causing diverse and varying neural problems.
  • Ménière's disease: Ear fluid disorder causing balance problems.
  • Neonatal Jaundice: Common skin yellowing jaundice in newborn babies.
  • Otosclerosis: Genetic ear bone disorder
  • Otospondylomegaepiphyseal dysplasia: A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features.
  • Paget's Disease: Breast carcinoma involving nipple and areola.
  • Sensorineural deafness: A condition which is characterized by deafness due to a sensineural deficit
  • Wegener's granulomatosis: A rare disease involving blood vessel inflammation which can affect the blood flow to various tissues and organs and hence cause damage. The respiratory system and the kidneys are the main systems affected.


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