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Symptoms » Ear symptoms » Glossary
 

Glossary for Ear symptoms

Medical terms related to Ear symptoms or mentioned in this section include:

  • 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 2-Hydroxyglutaricaciduria: A rare metabolic disorder characterized by high levels of a certain chemical (2-Hydroxyglutaric) which causes a serious progressive neurological disease and damage to the brain. The features of this disorder are variable and some cases are milder than others.
  • 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
  • 2p21 deletion syndrome: This syndrome is a more severe form hypotonia-cystinuria syndrome as a larger portion of genetic material from chromosome 2p21 is deleted. It is characterized by infant seizures, reduced muscle tone, developmental delay, lactic acidosis and unusual facial appearance.
  • 2q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 3-Hydroxyacyl-CoA Dehydrogenase II Deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • 3-Hydroxyisobutyric aciduria: A rare inborn metabolic disorder which causes brain and facial anomalies, seizures and growth problems.
  • 3-methylglutaconic aciduria, type 4: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3.
  • 3C syndrome: A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name.
  • 3q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 46,XX Gonadal dysgenesis epibulbar dermoid: A rare disorder characterized by gonad abnormalities and an eye disorder called epibulbar dermoid.
  • 46,XY chromosome 7 deletion p13-p21: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • 47 XYY syndrome: A genetic condition where males have an extra Y chromosome in each of their cells. Normally male cells have one X and one Y chromosome. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
  • 47,XXX syndrome: A genetic condition where females have an extra X chromosome in each of their cells. Normally female cells have two X chromosomes. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
  • 8p-Syndrome, partial: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
  • ABCD syndrome: A rare inherited condition characterized by albinism, deafness, a black lock of hair and intestinal abnormalities.
  • ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • ARTS syndrome: A rare lethal syndrome characterized by deafness, optic atrophy and ataxia.
  • Aase-Smith I syndrome: A very rare hereditary syndrome characterized by deformities such as joint contractures, anemia, hydrocephalus and cleft palate.
  • Abidi X-linked mental retardation syndrome: A rare genetic disorder characterized by a number of physical abnormalities
  • Abnormal ears: Abnormal ears are irregular, deformed or malfunctioning ears.
  • Abruzzo Erickson syndrome: A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness.
  • Accelerated hypertension: Accelerated hypertension is a condition characterized by a rapid increase in blood pressure. The condition is a medical emergency which can cause organ damage if not treated promptly.
  • Achard syndrome: An inherited connective tissue disorder characterized primarily by a short head, long, slender bones, recessed lower jaw and loose hand and foot joints.
  • Acoustic Neurinoma: A benign tumor of the 8th cranial nerve which lies in the tube connecting the inner ear to the brain.
  • Acoustic neuroma: A rare benign tumor that forms in the hearing canal. Can cause tinnitus, progressive hearing loss, headaches, facial numbness, papilledema, dizziness and an unsteady walk. Speaking and swallowing difficulty can occur in advanced stages. Also called acoustic neurilemoma, acoustic neurinoma and acoustic neurofibroma.
  • Acquired conductive hearing loss in children: Acquired conductive hearing loss in children is a type of hearing loss or deafness that is not present at birth and occurs in children due to an abnormality or disease of the outer or middle ear.
  • Acrocallosal syndrome: A rare genetic disorder characterized by underdeveloped or absent corpus callosum of brain, duplication of thumb or big toe and extra fingers or toes.
  • Acrocephalopolydactyly -- Cardiac Disease -- Ear, Skin and Lower Limb Defects: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalopolydactyly II: A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation.
  • Acrocephalopolysyndactyly type III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalopolysyndactyly, type 2 (ACPS 2): A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Acrocephalosyndactyly Syndrome type 5: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrocephalosyndactyly type 3 (ACPS 3): A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
  • Acrocephalosyndactyly type 5 (ACPS 5): A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrofacial dysostosis Catania form: One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare.
  • Acrofacial dysostosis Preis type: One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable.
  • Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
  • Acrofacial dysostosis atypical postaxial: A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features.
  • Acrofacial dysostosis autosomal recessive: A rare inherited disorder characterized mainly by facial, hand and foot anomalies. The disorder resembles Nager syndrome.
  • Acrofacial dysostosis postaxial, atypical: A rare disorder characterized by an unusual facial appearance, short stature and hand and foot bone anomalies. The disorder may be related to the fact that the infants were born to mothers with diabetes.
  • Acrofacial dysostosis, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
  • Acrofacial dysostosis, Palagonia type: One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.
  • Acroosteolysis dominant type: A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes.
  • Acrorenal mandibular syndrome: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
  • Acrosphenosyndactylia: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Acutane embryopathy: A rare disorder caused by fetal exposure to retinoids and resulting in mental and physical birth defects.
  • Acute Pesticide poisoning -- xylene: Xylene is an ingredient used in certain insecticides. Exposure to the chemical can cause a range of symptoms depending on the level and route of exposure. Exposure can occur through inhalation, ingestion, the skin or eyes. Acute exposure involves a exposure over a short period of time whereas chronic exposure occurs over a longer period of time.
  • Acute Tracheitis: Tracheitis is a bacterial infection of the trachea and is capable of producing airway obstruction
  • Acute lower respiratory conditions: An acute condition that occurs in the lower respiratory tract
  • Acute pimples on ears: acne is a disorder of the pilosebaceous unit. The inflammatory process varies from a papule, pustule to a nodule
  • Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma: Sudden hearing loss caused by such things as very loud noise (such as an explosion) or surgery.
  • Acute sinusitis: An acute inflammation of the sinuses
  • Acute upper respiratory infection: Upper respiratory tract infections, are the illnesses caused by an acute infection which involves the upper respiratory tract: nose, sinuses, pharynx or larynx
  • Adenoiditis: Infection of the adenoids in the nasal-throat region
  • Adenoviridae Infections: Infection with a virus from the Adenoviridae family. The most common sites for infection are membrane linings such as the intestines, respiratory and urinary tract and the eyes. The infection may result in a range of symptoms depending on the particular virus involved. Transmission usually occurs through breathing in the germs or through fecal-oral contact. The infection is contagious.
  • Adenovirus infection in immunocompromised patients: Infection with a virus from the Adenoviridae family that occurs in a patient with a weakened immune system. The infection in these people is serious and can be fatal. The infection may result in a range of symptoms depending on the particular virus involved. Transmission usually occurs through breathing in the germs or through fecal-oral contact.
  • Adenovirus-related Cold: An Adenovirus-related cold is a relatively minor contagious infection of the nose and throat caused by the Adenovirus. Although colds can cause discomfort they are not considered a serious condition.
  • Adhesive abuse: Adhesive abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Adhesives include household glues, rubber cement and model aeroplane glue. These adhesives can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
  • Adhesive addiction: Adhesive addiction refers to the compulsive need to abuse adhesives (e.g. sniffing them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Aerosols are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Adhesives includes household glue, rubber cement and model airplane glue.
  • Adrenal hypertension: Adrenal hypertension is high blood pressure caused by adrenal gland problems. For example, an adrenal tumor can cause excessive production of aldosterone which in turn causes salt-retention and high blood pressure. Severity of symptoms varies depending on the underlying cause.
  • Adrenoleukodystrophy, autosomal, neonatal form: A rare inherited disorder involving the adrenal glands, testes and certain parts of the brain (white matter). It is a less severe form of leukodystrophy where an abnormality within the body cells prevents the metabolism of certain fats (long chain fatty acids).
  • Adverse effects on ear: The occurrence of detrimental symptoms that affect the ear
  • Aerosol abuse: Aerosol abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Aerosols include air fresheners, hair spray, spray pain and deodorants. These aerosols can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
  • Aerosol addiction: Aerosol addiction refers to the compulsive need to abuse aerosol (e.g. sniffing them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Aerosols are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Aerosols includes spray pain, air freshener, deodorants and hair sprays.
  • Aerotitis syndrome: Trauma to the blood vessels in the ears caused by rapid changes in atmospheric pressure. Blockage of the Eustachian tube in the ear prevents equalization of air pressure and a vacuum develops inside the ear. Yawning or chewing can sometimes alleviate symptoms by opening up the Eustachian tube.
  • Agammaglobulinemia -- microcephaly -- craniosynostosis -- severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Agammaglobulinemia, microcephaly, and severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Age-Related Hearing Impairment: Progressive deterioration of hearing ability that affects both ears and occurs with aging. The hearing loss is sensorineural in nature and is most noticeable at high frequencies. There are a number of risk factors associated with age-related hearing impairment: smoking, ototoxic medication, cardiovascular disease and exposure to loud noise. It is estimated that a third of people over the age of 60 have some hearing loss and more than half of people over the age of 75 years have hearing loss.
  • Agenesis of the corpus callosum -- mental retardation -- coloboma -- micrognathia: A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly.
  • Aggressive fibromatosis -- parapharyngeal space: A type of tumor that occur near in the space around the pharynx and is locally invasive but not malignant. They tend to occur mainly in the head and neck region and symptoms depend on the exact location and aggressiveness of the tumor. Tumors often reoccur after surgical removal which then requires further treatment with radiation and chemotherapy.
  • Aging: The medical conditions from getting older.
  • Agnathia-holoprosencephaly-situs inversus: A very rare disorder characterized by a small or absent jaw, developmental brain defect and internal organs situated on the wrong side of the body (situs inversus). The severity and range of symptoms is variable.
  • Air sickness: disturbance between the central nervous system and the inner ear which affects the balance and equilibrium
  • Aksu von Stockhausen syndrome: A rare condition observed in a Turkish family and characterized by various head and neck malformations that have resulted from abnormal development of the branchial arches.
  • Al Awadi syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis.
  • Al Awadi-Raas-Rothschild syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis. The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related.
  • Al Gazali Hirschsprung syndrome: A rare disorder characterized by Hirschsprung disease (an intestinal disorder), nail abnormalities and facial anomalies.
  • Alagille syndrome: A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver.
  • Albers-Schonberg disease -- malignant recessive form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
  • Albinism ocular late onset sensorineural deafness: A rare inherited condition characterized by a lack of eye pigmentation and deafness that usually starts in middle-age. Severity of symptoms is variable.
  • Alcohol Withdrawal: Symptoms that occur when alcohol consumption is discontinued or reduced. Symptoms may vary depending on the level of dependence.
  • Alcohol-induced hypertension: Alcohol-induced hypertension is high blood pressure caused by excessive drinking of alcohol.
  • Allain Babin Demarquez syndrome: A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
  • Allan-Herndon-Dudley Syndrome: A very rare inherited disorder characterized primarilty by mental retardation.
  • Allergic contact dermatitis of the ear:
  • Alopecia mental retardation syndrome: A rare syndrome characterized primarily by a lack of hair and mental retardation.
  • Alopecia, anosmia, deafness, hypogonadism syndrome: A rare
  • Alpha-Mannosidosis: A rare condition which is characterized by a lysosomal storage defect.
  • Alpha-mannosidosis type II: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage. This form of the condition is less severe than type I (infantile form).
  • Alpha-mannosidosis, adult-onset form:
  • Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
  • Alport syndrome -- mental retardation -- midface hypoplasia -- elliptocytosis: A rare syndrome characterized by the association of Alport syndrome, mental retardation, underdeveloped midface and a blood abnormality (elliptocytosis). Alport syndrome is an inherited condition involving progressive kidney damage and hearing loss.
  • Alport syndrome with leukocyte inclusions and macrothrombocytopenia: A rare condition characterized by the presence of large blood platelets, kidney inflammation, deafness and abnormal leukocytes. End-stage kidney disease occurs in about a third of patients and tends to occur during the 3rd and 4th decades of life.
  • Alport syndrome with macrothrombocytopenia: A rare inherited syndrome characterized by progressive kidney damage and hearing loss as well as macrothrombocytopenia.
  • Alstrom disease: A rage genetic disorder involving a group of abnormalities affecting vision, hearing, kidney function and also characterized by obesity and diabetes mellitus.
  • Alstrom syndrome: A rare, hereditary genetic disorder which is progressive. Initial symptoms in infants are usually extreme light sensitivity, wobbling of the eyes and sometimes dilated dilated cardiomyopathy and congestive heart failure. Young children quickly gain weight and become obese and as they get older, multiple organ systems may be affected causing blindness, hearing loss, type 2 diabetes, heart failure, liver disease, urological dysfunction, pulmonary fibrosis and renal failure.
  • Alström Syndrome: A progressive condition which is characterized by deafness, obesity and visual problems in childhood that may lead to diabetes and kidney failure in adulthood
  • Amastia, bilateral, with ureteral triplication and dysmorphism: A very rare disorder characterized mainly by the absence of both breasts, triplicated ureters (normally they are duplicated), facial anomalies and various other defects.
  • Aminopterin -- Teratogenic Agent: There is strong evidence to indicate that exposure to ? during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Amlodipine -- Teratogenic Agent: There is strong evidence to indicate that exposure to Amlodipine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Amphetamine-induced hypertension: Amphetamine-induced hypertension is high blood pressure caused by use of amphetamines. Patients with an existing history of hypertension may suffer further blood pressure increases while taking amphetamines and this can be serious. Severity of symptoms varies amongst patients depending on their susceptibility, underlying health and duration of amphetamine use.
  • Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Amyloidosis, oculoleptomeningeal: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this particular type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages and vision impairment.
  • Ancylostoma duodenale: An infestation with Ancylostoma duodenale which is a parasitic hookwork whichcan cause serious disease in humans - usually occurs in people who work barefoot in damp soil. The hookworms suck blood from the intestines of the host which can result in anemia if there is a large number of worms.
  • Andersen-Tawil syndrome: A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium.
  • André syndrome: A rare fatal syndrome characterized mainly by bone calcification abnormalities and facial anomalies. Death usually occurs within weeks of birth.
  • Anemia, Iron-Deficiency: A lack of fully functioning red blood cells due to a deficiency of iron. The iron allows the body to make hemoglobin in red blood cells which in turn allows the red blood cell to carry oxygen.
  • Anemia, Refractory, with Excess of Blasts: A bone marrow disease which results in insufficient red blood cells in the blood (anemia). The prognosis is poor with death usually occurring within a couple of years. There are two types: type 1 refers to cases where the level of blasts is less than 10% and type 2 refers to cases where the level of blasts is 10-20%. When too many immature blood cells (blasts) are produced by the bone marrow, the condition may progress to acute myeloid leukemia - occurs in about a quarter of cases in type 1 and a third of cases in type 2.
  • Anemia, Refractory, with Excess of Blasts, type 1: A bone marrow disease which results in insufficient red blood cells in the blood (anemia). The prognosis is poor with death usually occurring within a couple of years. Type 1 refers to cases where the level of blasts is less than 10% and type 2 refers to cases where the level of blasts is 10-20%. When too many immature blood cells (blasts) are produced by the bone marrow, the condition may progress to acute myeloid leukemia - occurs in about a quarter of cases in type 1.
  • Anemia, Refractory, with Excess of Blasts, type 2: A bone marrow disease which results in insufficient red blood cells in the blood (anemia). The prognosis is poor with death usually occurring within a couple of years. Type 1 refers to cases where the level of blasts is less than 10% and type 2 refers to cases where the level of blasts is 10-20%. When too many immature blood cells (blasts) are produced by the bone marrow, the condition may progress to acute myeloid leukemia - occurs in about a third of cases in type 2.
  • Anencephaly: A birth defect where large parts of the brain is missing and the brainstem is malformed.
  • Angelman-Like Syndrome, X-linked: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
  • Ankylosis -- facial anomalies -- pulmonary hypoplasia syndrome: A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs.
  • Anophthalmia -- hypothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
  • Anophthalmia -- hypyothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
  • Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
  • Anophthalmia plus syndrome: An extremely rare disorder characterized by absent or very small eyes, underdeveloped ears and other facial anomalies.
  • Anotia: Congenital absence of one or both ears.
  • Anotia -- facial palsy -- cardiac defect: A rare syndrome characterized mainly missing ears, facial weakness and congenital heart defects.
  • Anterior spinal artery syndrome: Neurological symptoms caused by the blockage of the anterior spinal artery. The blockage may be caused by such things as trauma, cancer, thrombosis and arterial disease. Symptoms are determined by the exact location of the blockage.
  • Antley-Bixler Syndrome: A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities.
  • Anxiety due to labyrinthitis: Anxiety due to labyrinthitis refers to feelings of trepidation, nervousness, worry, and/or tension due to labyrinthitis.
  • Aortic arch anomaly with peculiar facies and mental retardation: A very rare syndrome characterized by mental retardation, characteristic facial anomalies and abnormal position of the aorta.
  • Apert syndrome: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Aplastic anemia: A blood disorder where the bone marrow produces insufficient new blood cells.
  • Arachnoid Cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the spinal cord and brain. The type and severity of symptoms is determined by the size and location of the cyst.
  • Armendares syndrome: A rare syndrome characterized mainly by retarded growth and facial, skull and eye abnormalities.
  • Arnold-Chiari malformation type 4: Arnold-Chiari malformation is a rare malformation where the base of the brain enters into the upper spinal canal. Type 4 actually involves a lack of development of a portion of the base of the brain (cerebellum). The prognosis is very poor with death often occurring during infancy.
  • Arthritis -- short stature -- deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
  • Arthrogryposis -- ophthalmoplegia -- retinopathy: A very rare syndrome characterized by congenital contractures of the hands and feet as well as eye problems.
  • Arthrogryposis IUGR thoracic dystrophy: A very rare syndrome characterized by congenital joint contractures, intrauterine growth retardation (IUGR) and ribcage abnormalities.
  • Arthrogryposis multiplex congenita -- pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
  • Arthrogryposis multiplex congenita type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
  • Arthrogryposis multiplex with deafness, inguinal hernias, and early death: A rare syndrome characterized multiple joint contractures throughout the body, deafness, inguinal hernias and death usually within months of birth.
  • Arthrogryposis, distal, type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
  • Arthrogryposis-like hand anomaly -- sensorineural deafness: A rare disorder characterized by hand contractures and deafness.
  • Aspartylglucosaminidase deficiency: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglycosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspergillus niger infection: A rare fungal infection that often causes a black mould to appear on some fruit and vegetables but may also infect humans through inhalation of fungal spores.
  • Ataxia -- diabetes -- goiter -- gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Ataxia deafness reardon type: A rare syndrome observed in a Kuwati family characterized by ataxia, deafness and mental retardation.
  • Ataxia, Hereditary, Autosomal Dominant: A group of rare, dominantly inherited neuromuscular disorder involving degeneration of the brain and spinal cord. The range, progression and severity of symptoms can vary quite considerably depending on the genetic defect involved.
  • Ataxia, episodic -- vertigo -- tinnitus -- myokymia: A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as tinnitus and vertigo. Stress, exhaustion, sudden movements and exertion may trigger the episodes. It is caused by a defect on chromosome 1q42.
  • Ataxia-deafness syndrome: A rare syndrome characterized by the association of ataxia with deafness.
  • Athabaskan brainstem dysgenesis: A rare neurological disorder caused by abnormal brainstem development and function.
  • Athabaskan severe combined immunodeficiency: A severe immunodeficiency disorder found in Navajo and Apache populations.
  • Atherosclerosis, premature -- deafness -- diabetes mellitus -- photomyoclonus -- nephropathy -- degenerative neurologic disease: A rare syndrome characterized mainly by deafness, diabetes, epilepsy, kidney disease and premature hardening of the arteries.
  • Atherosclerosis- deafness -- diabetes -- epilepsy -- nephropathy: A rare syndrome characterized mainly by deafness, diabetes, epilepsy, kidney disease and premature hardening of the arteries.
  • Ativan withdrawal: Symptoms that occur when Ativan (Lorazepam) use is discontinued or reduced. Ativan is an anti-anxiety drug. Symptoms may vary depending on the level of dependence.
  • Auditory Processing Disorder: Failure of the brain to correctly process sound.
  • Auditory hallucination: also known as paracusia
  • Auditory hallucinations: An auditory perception that has no basis on external stimulation.
  • Auditory neuropathy: A hearing disorder caused by impaired nerve signals from the inner part of the ear to the brain.
  • Aughton syndrome: A very rare syndrome characterized primarily by small eyes, cleft palate, mental retardation and dextrocardia (heart located on right side of chest instead of left).
  • Aural atresia -- multiple congenital anomalies -- mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
  • Auralcephalosyndactyly: A very rare syndrome characterized by ear abnormalities, premature fusion of skull bones and syndactyly (fusion of digits).
  • Auricle bleeding: Usually occurs due to trauma to the ear.
  • Auricle blister: Earlobe blisters are small painful fluid filled lesions usually present in the external ear or ear canal.
  • Auricle bruise: Earlobe bruises are related to injuries.
  • Auricle deformity: Alteration in the appearance of the ear either due to congenital or acquired lesion.
  • Auricle infection: Infection of the external part of the ear.
  • Auricle inflammation: Inflammation of the external part of the ear.
  • Auricle itch: Usually occurs due any inflammatory reaction.
  • Auricle lump: Raised small irregular swelling in the ear.
  • Auricle pain: Pain due to lesions related to the external ear or radiating pain from middle and inner ear.
  • Auricle rash: Rash in the external part of the ear.
  • Auricle redness: Redness of the external part of the ear.
  • Auricle sensitive: Raised responsiveness of the ear to stimulus.
  • Auricle swelling: Swelling of the external part of the ear.
  • Auricle ulcer: Break in the continuity of the lining skin or mucous membrane of the ear.
  • Auricular pits and/or tags in children: Auricular pits and/or tags in children is a condition in which a child has pits or tags on the outer aspect of the ear called the auricle.
  • Auricular septal defect:
  • Auriculo-condylar syndrome: A rare syndrome characterized by variable ear and jaw abnormalities.
  • Auriculoosteodysplasia: A rare disorder characterized mainly by abnormal ears and multiple bone development anomalies.
  • Autism: Childhood mental condition with social and communication difficulties.
  • Autism, Susceptibility to, 15: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 15 is linked to a genetic defect on chromosome 7q35-q36.
  • Autism, X-linked, susceptibility to, 1: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. X-Linked type 1 is linked to a genetic defect on chromosome Xq13.
  • Autism, X-linked, susceptibility to, 2: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. X-Linked type 2 is linked to a genetic defect on chromosome Xp22.3.
  • Autism, X-linked, susceptibility to, 3: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. X-Linked type 3 is linked to a genetic defect on chromosome Xp22.3.
  • Autism, susceptibility to, 1: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 1 is linked to a genetic defect on chromosome 7q22.
  • Autism, susceptibility to, 10: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 10 is linked to a genetic defect on chromosome 7q36.
  • Autism, susceptibility to, 11: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 11 is linked to a genetic defect on chromosome 1q24.
  • Autism, susceptibility to, 12: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 12 is linked to a genetic defect on chromosome 21p13-q11.
  • Autism, susceptibility to, 13: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 13 is linked to a genetic defect on chromosome 12q14.
  • Autism, susceptibility to, 14: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 14 is linked to a genetic defect on chromosome 16p11.2.
  • Autism, susceptibility to, 3: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 3 is linked to a genetic defect on chromosome 13q14.
  • Autism, susceptibility to, 4: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 4 is linked to a genetic defect on chromosome 15q11.
  • Autism, susceptibility to, 5: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 5 is linked to a genetic defect on chromosome 2q.
  • Autism, susceptibility to, 6: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 6 is linked to a genetic defect on chromosome 17q11.
  • Autism, susceptibility to, 7: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 7 is linked to a genetic defect on chromosome 17q21.
  • Autism, susceptibility to, 8: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 8 is linked to a genetic defect on chromosome 3q25-q27.
  • Autism, susceptibility to, 9: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 9 is linked to a genetic defect on chromosome 7q31.
  • Autoimmune inner ear disease: A rare disorder where the body's own immune system attacks the inner ear.
  • Autosomal Dominant Charcot-Marie-Tooth with hearing loss: A dominantly inherited form of Charcot-Marie-Tooth disease which also involves hearing loss. Charcot-Marie-Tooth disease is a progressive nerve disease that affects the peripheral nerves and hence the muscles primarily in the limbs.
  • Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
  • BANF acoustic neurinoma: A type of tumor that affects hearing and is associated with a condition called BANF (bilateral acoustic neurofibromatosis). The tumor is benign an occurs in the cells that form the myelin sheath of the vestibulocochlear nerve. The symptoms vary depending on the size and exact location of the nerve. The tumor may become large enough to compress against various cranial nerves or even the brainstem.
  • BBB syndrome, X-linked: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner. Females with type I tend to have few if any symptoms - often the only symptom is wide-set eyes.
  • BOR syndrome: A rare genetic disorder characterized by hearing loss, kidney malformations and branchial arch anomalies. There are two subtypes with different genetic defect origins.
  • BOR-Duane hydrocephalus contiguous gene syndrome: A very rare syndrome characterized primarily by an eye movement disorder (Duane syndrome), abnormal trapezius muscle (runs from neck to shoulder), hydrocephalus and BOR syndrome (branchio-oto-renal syndrome with branchial, eye and kidney abnormalities).
  • Bagatelle-Cassidy syndrome: An extremely rare syndrome characterized by a large head, widely spaced eyes, hearing loss, short limbs and developmental delay.
  • Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Baraitser-Rodeck-Garner syndrome: A very rare syndrome characterized primarily by mental retardation, premature fusion of skull bones, kidney anomalies, seizures and facial anomalies.
  • Barakat syndrome: A rare condition characterized by deafness, kidney disease and insufficiency parathyroid hormone production.
  • Barbiturate abuse: Abuse of barbiturate medications
  • Barotitis Media: Middle ear inflammation or bleeding caused by differences between the middle ear air pressure and atmospheric air pressure. Can be caused by such things as scuba diving and symptoms include pain, tinnitus, diminished hearing and vertigo. Also called aerotitis media.
  • Barotrauma: Damage to the lungs, ear or sinuses caused by rapid or extreme changes in air pressure.
  • Barre-Lieou syndrome: A rare condition where trauma (such as pinching by adjacent vertebrae or arthritis) to the sympathetic nerves located in the spinal area of the neck results in a variety of neurological symptoms.
  • Bartter Syndrome type 4: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4 also involves sensorineural deafness.
  • Bartter Syndrome type 4A: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4A also involves sensorineural deafness.
  • Bartter Syndrome type 4B: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4B also involves sensorineural deafness.
  • Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.
  • 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.
  • Battle's sign: ecchymosis over the mastoid process of the temporal bone.
  • Bd syndrome: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
  • Beals syndrome: A rare genetic connective tissue disorder characterized by joint contractures, arachnodactyly and a crumpled appearing ear.
  • Beckwith-Wiedemann Syndrome: An inherited disorder marked by gigantism, exomphalos and macroglossia. Also called EMG syndrome and exophthalmos-macroglossia-gigantism syndrome.
  • Bell's palsy: A one sided muscle paralysis of sudden onset due to a problem with the facial nerve
  • Belladona -- Teratogenic Agent: There is strong evidence to indicate that exposure to Belladona during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Ben-Ari-Shuper-Mimouni syndrome: A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder.
  • Benadryl -- Teratogenic Agent: There is evidence to indicate that exposure to Benadryl during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Benazepril -- Teratogenic Agent: There is strong evidence to indicate that exposure to Benazepril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Benign Paroxysmal Positional Vertigo: A condition where certain head movements cause extreme dizziness.
  • Benzodiazepine abuse: Abuse of benzodiazepine tranquiliser medications
  • Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.
  • Beta-mannosidosis: A very rare type of inherited glycoprotein storage disease where deficiency of an enzyme called beta-mannosidase results in a build-up of certain sugars (oligosaccharides) which can harm the body.
  • Bilateral Renal Agenesis: Failure of both kidneys to from during embryogenesis.
  • Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
  • Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
  • Biotinidase deficiency, late onset: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes. The severity of symptoms may vary depending on the degree of deficiency. Severe cases can result in metabolic acidosis which can lead to death if treatment isn't given.
  • Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Birth Injury: An injury to the mother caused by childbirth
  • Birth symptoms: Symptoms related to childbirth.
  • Bjornstad syndrome: An inherited condition characterized by twisted hairs and nerve deafness.
  • Björnstad Syndrome:
  • Blastoma: A type of tumor that originates from precursor cells or blasts (immature or embryonic tissue). The symptoms can vary greatly and are determined by the part of the body that is affected. Blastomas can occur in parts of the body such as the brain, liver, kidneys, nervous system, bones and the retina.
  • Bleeding auricles: Bleeding auricles refers to bleeding from the outside areas of the ear.
  • Bleeding from ear: Bleeding out of an ear
  • Bleeding from ear in children: Bleeding from ear in children includes any type of bleeding from the outer, middle or outer ear of a child.
  • Blepharophimosis -- nasal groove -- growth delay: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
  • Blepharophimosis -- nasal groove -- growth retardation: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
  • Blepharophimosis telecanthus microstomia: A rare syndrome characterized by a flat face, small mouth and ear anomaly as well as a range of other abnormalities.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 1: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, ptosis, epicanthus inversus: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid.
  • Blowing sound in ears: Blowing sound in ears refers to gusting sounds, which are similar to the sound of wind, that are heard without a real source of the sound.
  • Blowing sound in ears in children: Blowing sound in ears in children is a condition in which a child hears a blowing sound without a source for the sound, such as the wind
  • Bone dysplasia -- corpus callosum agenesis: A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities.
  • Bonnier's syndrome: A range of symptoms caused by damage to Dieter's nucleus (the lateral nucleus of the vestibular nerve) or its connections.
  • Borjeson Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
  • Borjeson-Forssman-Lehmann Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
  • Borud Syndrome: A very rare syndrome characterized by numerous features including hearing and vision problems, heart muscle disease, ataxia and peripheral neuropathy.
  • Bosley-Salih-Alorainy syndrome: A rare recessively inherited disorder involving inner and outer ear deformity, eye movement disorder, deafness, cardiovascular malformations and other anomalies. The range and severity of symptoms is variable.
  • Boudhina-Yedes-Khiari syndrome: A very rare syndrome characterized primarily by short stature, small head, mental deficiency, seizures, hearing loss and skin lesions.
  • Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
  • Brachycephaly -- deafness -- cataract -- mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
  • Brachycephaly -- deafness -- cataract -- microstomia -- mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
  • Brachydactyly -- dwarfism -- mental retardation: A very rare syndrome characterized by short fingers, very short stature and mental retardation.
  • Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia: A rare syndrome characterized mainly by short digits, extra digits and a small or absent shin bone.
  • Brailsford: A rare inherited skeletal disorder characterized by short hand and foot bones which may also be deformed. Other anomalies are also present.
  • Brain Fag syndrome: A type of neurotic disorder that was first observed in white collar workers in Africa.
  • Brain symptoms: Symptoms affecting the brain
  • Brain tumor, adult: A growth or tumor that develops in the tissues of the brain in adults. The tumor can be benign or malignant.
  • Branchial arch syndrome X-linked: A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects.
  • Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct: A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of the upper lip.
  • Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and: A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of upper lip.
  • Branchio oculo facial syndrome Hing type: A rare inherited disorder characterized by ear, eye and facial anomalies.
  • Branchio-Oculo-Facial Syndrome: A rare genetic disorder characterized by branchial defects, lacrimal duct obstruction and pseudocleft of upper lip.
  • Branchio-Oto-Renal Syndrome: Autosomal dominant genetic disorder involving kidneys, ears and neck.
  • Branchio-oto-renal (BOR) syndrome, type 2: A rare genetic disorder characterized by abnormal kidney development and varying degrees of hearing impairment. Type 2 involves a defect on the SIX5 gene on chromosome 19q13.3.
  • Branchiootic syndrome: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset.
  • Branchiootic syndrome 1: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset. Type 1 is caused by a defect on the EYA1 gene on chromosome 8q13. It is similar to the branchio-oto-renal syndrome except it doesn't involve any kidney abnormalities.
  • Branchiootic syndrome 2: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset. Type 2 is caused by a defect chromosome 1q31. It is similar to the branchio-oto-renal syndrome except it doesn't involve any kidney abnormalities.
  • Branchiootic syndrome 3: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset. Type 3 is caused by a defect chromosome 14q23. It is similar to the branchio-oto-renal syndrome except it doesn't involve any kidney abnormalities.
  • Broken jaw: Fracture of the jaw bone (mandible)
  • Bronchopulmonary dysplasia: A condition which is characterized by dysplasia of the brochopulmonary vessels
  • Budesonide -- Teratogenic Agent: There is strong evidence to indicate that exposure to Budesonide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Bulging tympanic membrane: bulging tympanic membrane occurs due to fluid collection in the middle ear cavity
  • Bulging, hyperaemic tympanic membrane: occurs in acute inflammatory conditions
  • Burn-McKeown syndrome: A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies.
  • Burning ear sensation in children: Burning ear sensation in children occurs when a child experiences a stinging, hot, or inflamed feeling in the ear.
  • Buzzing in ears: The occurrence of buzzing in the ears
  • Buzzing in ears in children: Buzzing in ears in children occurs when a child hears an abnormal humming, whining, or droning sound.
  • Buzzing or ringing in the ears: tinnitus is the ringing, buzzing, crackling, or hissing sound heard inside one or both ears
  • Bárány syndrome: A rare syndrome characterized by various symptoms associated with a headache that occurs on one side of the back of the head.
  • C-like syndrome: A rare disorder involving poor fetal growth, limb and facial defects and severe developmental delay.
  • CDG syndrome type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • CDG syndrome type I: A rare genetic disorder where the body is unable to synthesize glycoproteins which results in multisystem problems.
  • CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
  • CMV antenatal infection: A rare condition where a fetus becomes infected with the cytomegalovirus through the mother.
  • Campomelic dwarfism: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Campomelic dysplasia: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Camptodactyly syndrome, Guadalajara type 1: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.
  • Camptodactyly syndrome, Guadalajara type III: A rare syndrome characterized mainly by a variety of defects including facial dysmorphism.
  • Camurati Engelmann disease, type 2: A rare disorder (described in two patients) which has similar symptoms to the genetic condition called Camurati Engelmann disease but the genetic defect responsible for type 1 is not present in type 2. Type 2 has additional bone abnormalities which were noted on radiographs. Patients tend to suffer flare-ups of their condition which is accompanied by severe pain which may leave the patient incapacitated. Flare-ups can be triggered or made worse by stress, exhaustion, exercise, growth spurts, standing too long, walking too long, infection, illness, injury, surgery, cold weather and sudden changes in air pressure.
  • Camurati-Engelmann Disease: A very rare genetic disease thickening of areas of bone causing pain, weakness and wasting. Usually affects the legs during childhood. Also called diaphyseal dysplasia.
  • Canavan disease: Rare genetic degenerative brain disease in infants.
  • Canavan leukodystrophy: A rare inherited disorder where a chemical imbalance in the brain leads to spongy degeneration of the central nervous system which results in progressive mental deterioration and associated symptoms.
  • Captopril -- Teratogenic Agent: There is strong evidence to indicate that exposure to Captopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Carbamazepine -- Teratogenic Agent: There is strong evidence to indicate that exposure to Carbamazepine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cardioauditory syndrome of Sanchez- Cascos: A rare syndrome characterized mainly by heart and hearing abnormalities. The deafness was present at birth or soon after.
  • Cardiocranial syndrome: A rare syndrome characterized mainly by heart and skull abnormalities.
  • Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing.
  • Cardiomyopathy -- hearing loss, type t RNA lysine gene mutation: A rare inherited disorder characterized by heart muscle disease and deafness. The deafness is inherited from the mother and is caused by a genetic defect. Patients may be asymptomatic for a number of years. The rate of progression of the disorder is variable with some patients being asymptomatic until adulthood.
  • Cardiomyopathy -- hypogonadism -- metabolic anomalies: A rare syndrome characterized mainly by heart muscle disease, hypogonadism, blindness, deafness and metabolic anomalies. Puberty was normal despite the hypogonadism.
  • Cardiomyopathy diabetes deafness: A rare syndrome characterized by the association of heart muscle disease, diabetes and deafness.
  • Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Cartilaginous -- arthritic -- ophthalmic -- deafness syndrome: A rare syndrome characterized by the association of eye, joint and cartilage disease as well as deafness.
  • Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.
  • Cataract deafness hypogonadism: A very rare syndrome characterized mainly by deafness, cataracts and a deficiency of sex hormone production.
  • Cataract dental syndrome: A very rare inherited condition mainly involving eye abnormalities but also various other physical abnormalities. The type and severity of symptoms is variable.
  • Catel-Manzke Syndrome: A rare genetic disorder characterized by a small jaw, cleft palate and an extra bone at the base of the pointer finger.
  • Cathinone poisoning: Cathinone comes from the leaves of the Khat plant which is native to eastern Africa. Cathinone is a stimulant as well as have pain killing, weight loss and neuromuscular effects. The psychoactive effects are usually utilized by chewing on the leaves of the plant but sometimes dried leaves are used.
  • Caudal appendage -- deafness: A very rare syndrome characterized mainly by deafness, finger bone abnormalities and a spinal extension giving a tail-like appearance (caudal appendage).
  • Cauliflower ear: Ear deformity from ear trauma; common in boxers
  • Cerebellar Ataxia, Deafness and Narcolepsy: A rare condition characterized by the association of narcolepsy, deafness and cerebellar ataxia. Narcolepsy is a sleep disorder where characterized by the classic tetrad of excessive daytime sleepiness, cataplexy, hypnagogic hallucinations and sleep paralysis.
  • Cerebellar atrophy with progressive microcephaly: A very rare disorder characterized mainly by a small brain, small head, underdeveloped brain, brain degeneration, contractures, eye problems and seizures.
  • Cerebral Palsy: Any brain disorder causing movement disability
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome: A rare disorder characterized by abnormal brain development, neurological problems, scaly skin and thickened skin on the palms and soles.
  • Cerebro-oculo-dento-auriculo-skeletal syndrome: A very rare syndrome characterized by abnormalities of the brain, eyes, teeth, ears and skeleton.
  • Cerebro-oculo-nasal syndrome: A rare syndrome characterized mainly by eye, nose and brain malformations.
  • Cerebrocostomandibular Syndrome: A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities.
  • Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
  • Cervicooculoacoustic syndrome: A rare genetic disorder characterized by ocular palsy, congenital perceptive deafness and fusion of the vertebrae in the neck.
  • Char syndrome: A very rare genetic disorder characterized mainly by an unusual facial appearance, abnormal little fingers and a heart abnormality.
  • Charcot-Marie-Tooth Disorder: Degeneration of limb muscles.
  • Charcot-Marie-Tooth disease -- deafness: Charcot-Marie-Tooth disease is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Charcot-Marie-Tooth disease and deafness involves the usual CMT symptoms as well as deafness.
  • Charcot-Marie-Tooth disease deafness recessive type: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4D is inherited recessively and is caused by a defected in a gene in chromosome 8 and is a severe form of the disease that also involves deafness.
  • Charcot-Marie-Tooth disease, Type 1E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1E involves the usual CMT symptoms as well as deafness.
  • Charcot-Marie-Tooth disease, Type 2J: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2J has an autosomal dominant inheritance and involves a defect on chromosome 1q22.
  • Charcot-Marie-Tooth disease, X-linked: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X2 is an inherited defect of the X chromosome and affects males to a greater degree than females.
  • Charcot-Marie-Tooth disease, X-linked recessive, 4: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4X is an inherited defect of the X chromosome and affects males to a greater degree than females and also involves mental retardation and deafness.
  • Charcot-Marie-Tooth disease, X-linked recessive, 5: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X5 is an inherited defect of the X chromosome and affects males to a greater degree than females. In addition to normal CMT symptoms it also involves deafness and eye problems.
  • Chemical poisoning -- 5,-Methoxy-N,N-Diisopropyltryptamine: 5,-Methoxy-N,N-Diisopropyltryptamine is a chemical used as a designer drug for its hallucinogen and aphrodisiac effects. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Acetylsalicylic Acid: Acetylsalicylic Acid is also known as aspirin and is primarily used to relieve pain, fever and inflammation. Excessive exposure to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Aniline: Aniline is a chemical used mainly in the manufacture of perfumes, varnishes, resins, dyes, paint removers, herbicides, fungicides, explosives, solvents and photographic chemicals. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Benzene: Benzene is a chemical used mainly in gasoline fuel and as an industrial solvent. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Bromates: Bromate is a chemical used mainly in perming solution neutralizers and in small amounts as a bread preservative. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Butyl Alcohol: Butyl alcohol is a chemical used mainly in solvents and in pharmaceutical manufacturing processes. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Dichlorphenamide: Dichlorphenamide is a chemical used mainly as a treatment for glaucoma. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Ether: Ether is a chemical used mainly as an anesthetic and industrial solvent. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Hexane: Hexane is a chemical used mainly in the manufacture of products such as glue, paint, shoes and furniture. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Lead-containing Paint: Lead pain contains lead as well as other harmful chemicals. The lead in the pain is toxic (especially to young children) and ingesting fresh or old paint can cause serious symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Methanol: Methanol is a chemical used mainly in fuel, paint removers, solvent, antifreeze and in the production process of many other products. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Sodium Monofluoroacetate: Sodium Monofluoroacetate is a chemical used mainly as a rodenticides, often to control mammal pests in crops. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Tetrahydrofuran: Tetrahydrofuran is a chemical used mainly as a plastic solvent and in the processing of varnish, ink, paint and glue. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Toluene: Toluene is a chemical used mainly in pesticides, degreasers, glues and pain removers. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chiari Malformation: Protrusion of the brain down the spinal column.
  • Chitty Hall Baraitser syndrome: A very rare syndrome characterized by short stature (due to abnormal development of ends of thigh bones), deafness, blocked tear ducts and thigh bone abnormalities.
  • Chlorpheniramine -- Teratogenic Agent: There is evidence to indicate that exposure to Chlorpheniramine (an antihistamine medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Chlorpropamide -- Teratogenic Agent: There is evidence to indicate that exposure to Chlorpropamide (an antidiabetic drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Choanal atresia -- deafness -- cardiac defects -- dysmorphia: A rare birth disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and facial anomalies.
  • Choanal atresia -- deafness -- cardiac defects -- dysmorphism: A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies.
  • Cholesteatoma: Uncommon middle ear condition
  • Chondrodysplasia -- disorder of sex development: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
  • Chondrodysplasia -- pseudohermaphrodism: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
  • Chondrodysplasia, type Nance-Sweeney: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
  • Choroideremia: A rare, inherited, progressive eye disease that causes degeneration of the retina and blindness. The disease usually only affects males.
  • Chromosome 1, 1p36 deletion syndrome: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact location of chromosomal deletion.
  • Chromosome 1, deletion q21 q25: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, osteoporosis, facial anomalies and hearing loss.
  • Chromosome 1, duplication 1p21 p32: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as short stature, newborn or fetal death, small head, undescended testes and various facial abnormalities.
  • Chromosome 1, monosomy 1p22 p13: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, short stature, hearing loss and hand defects.
  • Chromosome 1, monosomy 1p31 p22: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, missing teeth and small eyes and jaw.
  • Chromosome 1, monosomy 1p32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, clubfoot an umbilical hernia.
  • Chromosome 1, monosomy 1p34 p32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, fingernail anomalies and testicular problems.
  • Chromosome 1, monosomy 1q25 q32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as digital defects, facial dysmorphism, retarded growth, mental retardation and spasticity.
  • Chromosome 1, monosomy 1q32 q42: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as fetal or newborn death, facial dysmorphism, short stature, finger defects and various other anomalies.
  • Chromosome 1, trisomy 1q32 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities.
  • Chromosome 1, trisomy 1q42 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction, short stature, mental retardation and narrowing of the pulmonary arteries and valves.
  • Chromosome 1, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 10 ring:
  • Chromosome 10 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 10 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 10, Monosomy 10p:
  • Chromosome 10, trisomy 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
  • Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
  • Chromosome 10p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
  • Chromosome 10p duplication/10q deletion syndrome: A rare chromosomal disorder where a section of the short arm (p) of chromosome 10 is duplicated and a section of the long arm (q) of chromosome 10 is deleted resulting in various abnormalities.
  • Chromosome 11, Partial Monosomy 11q: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
  • Chromosome 11q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 11 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
  • Chromosome 11q partial deletion: A rare chromosomal disorder where a portion of chromosome 11 is missing and is characterized by trigonencephaly, heart defects and a large, carp-shaped mouth.
  • Chromosome 12 trisomy: A rare chromosomal disorder where there are three copies of chromosome 12 rather than the normal two resulting in various abnormalities.
  • Chromosome 12, 12p trisomy: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
  • Chromosome 12, Isochromosome 12p Mosaic: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
  • Chromosome 12p deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 12p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities.
  • Chromosome 12p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
  • Chromosome 12p partial deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 12p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities.
  • Chromosome 13 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 13 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 13 rather than the normal two resulting in various abnormalities. Most die within months and there are few survivors after 10 years.
  • Chromosome 13, Partial Monosomy 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13p duplication: A rare chromosomal disorder where duplication of a portion of chromosome 13 causes various abnormalities such as mental retardation, short stature, facial dysmorphism, delayed puberty and heart defects.
  • Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q partial deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 14 trisomy: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Chromosome 14 trisomy syndrome: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities.
  • Chromosome 14 uniparental disomy syndrome: A rare chromosomal disorder where two homologues are obtained from one parent.
  • Chromosome 14, trisomy mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
  • Chromosome 14q deletion syndrome: A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
  • Chromosome 14q, terminal duplication: A very rare syndrome caused by a duplication of a part of the material on chromosome 14 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation.
  • Chromosome 15 inverted duplication: A rare chromosomal disorder involving an duplicated section of chromosome 15 which is reversed end-to-end resulting in various abnormalities.
  • Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 15q tetrasomy syndrome: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities.
  • Chromosome 15q, partial duplication (unbalanced translocation): A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 15q, tetrasomy: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is involved.
  • Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 15q26-qter Deletion Syndrome: A rare disorder where a portion of genetic material on a particular chromosomal location (15q26-qter) is missing which manifests in a variable range of symptoms.
  • Chromosome 16p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 16q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 16q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material. Severe cases often result in spontaneous abortion or infant death.
  • Chromosome 17 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 17 trisomy mosaicism: A rare chromosomal disorder where there are three copies of chromosome 17 in some of the body's cells. The type of symptoms and severity is determined by the number of cells that have the three copies. Some cases have no obvious symptoms.
  • Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 17q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 18 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 18 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 18 deletion syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing.
  • Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.
  • Chromosome 18, deletion 18q23: A very rare syndrome caused by a deletion of a part of the material on chromosome 18 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation. The abnormalities vary from patient to patient.
  • Chromosome 18, trisomy 18p: A rare chromosomal disorder where a portion of the short arm (p) is duplicated resulting in various abnormalities.
  • Chromosome 18, trisomy 18q: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 18q- Syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • Chromosome 19 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 19 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 19p duplication syndrome: A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities.
  • Chromosome 19q, partial duplication: A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion.
  • Chromosome 19q13.11 Deletion syndrome: A rare genetic syndrome involving features such as poor fetal growth, reduced fetal activity, developmental problems and various other physical symptoms.
  • Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 1p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 1 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
  • Chromosome 2, monosomy 2pter p24: A very rare chromosomal disorder where a portion of chromosome 2 is deleted resulting in a range of birth defects and abnormalities.
  • Chromosome 2, monosomy 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 2, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • Chromosome 2, monosomy 2q37: A very rare chromosomal disorder where a part of the long arm of chromosome 2 is missing which results in various birth defects and abnormalities. The features of the disorder are determined by the exact size and location of the deletion.
  • Chromosome 2, trisomy 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 20 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 20 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 20, deletion 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 20p deletion syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 20p, partial duplication: A rare chromosomal disorder where a copy of the short arm of chromosome 20 has been triplicated instead of duplicated resulting in various anomalies.
  • Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
  • Chromosome 21q deletion syndrome: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 21 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 21q, partial deletion: A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted.
  • Chromosome 22 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 22 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 22 monosomy syndrome: A rare chromosomal disorder where there is only one copy of chromosome 22 in the body cells instead of two which results in various physical and mental abnormalities.
  • Chromosome 22 suprenumerary marker: A rare chromosomal disorder involving structural abnormalities of chromosome 22 and are more prevalent in children born to older mothers.
  • Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
  • Chromosome 22, microdeletion 22q11: A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted.
  • Chromosome 22, monosome mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 22, monosomy mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies.
  • Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
  • Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
  • Chromosome 22q duplication syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is duplicated.
  • Chromosome 22q11 Deletion Spectrum: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • Chromosome 22q11 deletion: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • Chromosome 22q11.2 microduplication: A rare chromosomal disorder where a part of the chromosome 22 genetic material at the q11.2 location is duplicated resulting in various anomalies ranging from mild to severe amongst different patients.
  • Chromosome 22q13 deletion: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
  • Chromosome 22q13.3 deletion syndrome: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13.3 location which results in various abnormalities.
  • Chromosome 2p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 2p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 2p16.1-p15 Deletion Syndrome: A rare genetic disorder characterized by a range of manifestations including mental retardation and skull and facial anomalies.
  • Chromosome 3, Monosomy 3p2: A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. Symptoms vary according to the exact size and location of the deletion.
  • Chromosome 3, monosomy 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and polydactyly.
  • Chromosome 3, monosomy 3p25: A rare chromosomal disorder characterized by mental retardation, short stature, deafness, extra digits, facial anomalies and various other abnormalities.
  • Chromosome 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
  • Chromosome 3, trisomy 3q13 2 q25: A rare chromosomal disorder characterized by various abnormalities including hearing loss, mental retardation, short stature, obesity and uterine and facial anomalies.
  • Chromosome 3/B translocation: A rare chromosomal disorder involving a translocation of genetic material of chromosome 3.
  • Chromosome 4 Ring: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
  • Chromosome 4 ring syndrome: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
  • Chromosome 4 short arm deletion: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 4, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.
  • Chromosome 4, trisomy 4p: A rare chromosomal disorder where a portion of chromosome four is duplicated so there is three copies of it instead of the normal two.
  • Chromosome 4, trisomy 4q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 4, trisomy 4q25 qter: A rare chromosomal disorder involving the duplication of a portion of the long arm of chromosome 4.
  • Chromosome 4p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 4q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 5, Trisomy 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 5, trisomy 5q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 5p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 5p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 5 rather than the normal two copies.
  • Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
  • Chromosome 5q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 6 Ring: A rare chromosomal disorder where the ends of chromosome 6 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
  • Chromosome 6 ring syndrome: A rare chromosomal disorder where the ends of chromosome 6 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
  • Chromosome 6, monosomy 6p23: A very rare chromosomal disorder characterized by various abnormalities including mental retardation, facial, finger and toe anomalies as well as heart, skeletal and neurological problems.
  • Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 6, partial trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
  • Chromosome 6, trisomy 6p: A very rare chromosomal disorder where a part of the short arm (p) of chromosome 6 is duplicated resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 6, trisomy 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 6p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 6 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 6q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 7 ring syndrome: A rare chromosomal disorder where the ends of chromosome 7 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
  • Chromosome 7, Partial Deletion of Short Arm: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
  • Chromosome 7, monosomy 7q3: A very rare chromosomal disorder involving a deletion of material from chromosome 7 at a location known as q3 which results in a wide range of abnormalities.

Conditions listing medical symptoms: Ear symptoms:

The following list of conditions have 'Ear symptoms' or similar listed as a symptom in our database. This computer-generated list may be inaccurate or incomplete. Always seek prompt professional medical advice about the cause of any symptom.

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Conditions listing medical complications: Ear symptoms:

The following list of medical conditions have 'Ear symptoms' or similar listed as a medical complication in our database.

 

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