Glossary for Bulging eyes

Medical terms related to Bulging eyes or mentioned in this section include:

• Acanthocytosis: A rare disorder where most of the red blood cells are abnormal with spiny projections due to lipid abnormalities. The blood abnormality is seen in conditions such as abetalipoproteinemia, severe liver disease and severe malnutrition. Symptoms and prognosis depend on the underlying disorder.
• Acrocephalosyndactyly II: A rare inherited disorder characterized primarily by premature closure of skull bones, fusion of fingers and toes and eye and face abnormalities.
• 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 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 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.
• 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.
• Adams Nance syndrome: A rare genetic disorder characterized by rapid heartbeat, high blood pressure, small eyes and the presence of excess glycine in the urine.
• Albers-Schonberg disease - Adult benign dominant 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 adult benign form is associated with a normal life expectancy and is often asymptomatic.
• Alveolar soft part sarcoma: A rare malignant tumor that occurs in soft connective tissues with an unknown origin. It is a very slow growing tumor which tends to metastasize to the lung and brain years after it is first diagnosed.
• Apelt-Gerkin-Lenz Syndrome: A rare inherited syndrome characterized by clefting of the lip and palate as well as the absence of variable portions of all of the limbs.
• 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.
• Aplasia cutis congenita - epibulbar dermoids: A very rare syndrome characterized by increased skin pigmentation, a localized absence of skin (aplasia cutis congenital) and epibulbar dermoids (a benign eye tumor).
• Axenfeld-Rieger anomaly - hydrocephaly - skeletal abnormalities: A rare syndrome characterized mainly by skeletal abnormalities, excess fluid inside the skull and eye anomalies.
• Axenfeld-Rieger syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities. The range of symptoms that can occur is somewhat variable.
• Beare-Stevenson cutis gyrata syndrome: A rare genetic disorder involving skin and skull abnormalities due to the premature fusion of skull bones.
• Blood clots: Multiple coagulums that are located in the blood stream due to the aggregation of blood factors
• Bone fragility, craniosynostosis, proptosis, hydrocephalus: A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull.
• Brachycephalofrontonasal dysplasia: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
• C-like syndrome: A rare disorder involving poor fetal growth, limb and facial defects and severe developmental delay.
• Camptodactyly - joint contractures and facial skeletal dysplasia: A rare genetic disorder characterized by joint contractures, drooping eyelids, spinal curvature and permanently bent fingers (camptodactyly).
• 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.
• Cantu syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
• Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing.
• Chondrodysplasia, type Nance-Sweeney: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• 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 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 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 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 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 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 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, partial monosomy 7p: 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 9, monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities.
• Chromosome 9, trisomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two.
• Chromosome 9p deletion syndrome: A rare genetic disorder where a portion of the genetic material from the short arm of chromosome 9 is missing. The symptoms or severity may vary somewhat between patients.
• Congenital disorder of glycosylation type 1J: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ij is caused by a defect on chromosome 11q23.3 and involves a defect on the gene for UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase.
• Congenital glaucoma: A form of glaucoma affecting babies and younger children.
• Cortical hyperostosis-syndactyly: A rare genetic disorder characterized by webbed fingers and thickening and overgrowth of bones.
• Cranio-facio-cardio-skeletal dysplasia: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and facial and skeletal abnormalities.
• Craniofacial dysostosis type 1: 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 poor vision, hypoplasia of maxilla an impaired hearing.
• Craniofaciocardioskeletal syndrome: A very rare syndrome characterized by facial, skull, heart and skeletal abnormalities.
• Craniofrontonasal syndrome Teebi type: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
• Craniosynostosis Maroteaux Fonfria type: A rare disorder which is similar to a condition called Apert syndrome but also involves extra fingers and toes. Apert syndrome is 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
• Crouzon Syndrome: A condition which is characterized by craniofacial dysostosis
• Crouzonodermoskeletal syndrome: A rare disorder characterized by the premature jointing of the skull bones as well as acanthosis nigricans which is a skin condition.
• Cushing's syndrome: Symptoms similar to those of Cushing's disease
• Deafness - goiter - stippled epiphyses: A congenital metabolic disorder where the body fails to respond to thyroid hormone even though there is sufficient quantities of the hormone.
• Del(1) (q25-q32): A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is missing. The range and severity of symptoms is variable.
• Del(1) (q25.2-q31.2): A very rare chromosomal disorder where a portion of the long arm (q25.2-q31.2) of chromosome one is missing.
• Dermoid cyst: Benign cystic tumor often containing skin, hair, and other tissue
• Diaphragmatic hernia - exomphalos - corpus callosum agenesis: A very rare syndrome characterized mainly by a diaphragmatic hernia (defect in the diaphragm that allows some of the abdominal organs to move into the chest cavity), brain development abnormalities and deafness.
• Eccentrochondrodysplasia: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down.
• Ehlers Danlos syndrome type 4, autosomal dominant: A rare genetic connective tissue disorder characterized by delicate skin, fragile blood vessels, distinctive facial features and minimal joint problems - previously known as EDS type 4.
• Ehlers-Danlos syndrome, vascular type: A rare genetic connective tissue disorder characterized by delicate skin, fragile blood vessels, distinctive facial features and minimal joint problems - previously known as EDS type 4.
• Elejalde syndrome: A rare congenital syndrome characterized excessive fetal growth, skull abnormalities, extra fingers or toes and other abnormalities.
• Enslin syndrome: A rare disorder characterized mainly by the presence of a tower skull, adenoid hypertrophy and bulging eyes.
• Eosinophilic granuloma: A fairly benign form of bone tumor.
• Esthesioneuroblastoma: A rare type of tumor that occurs in the upper nasal cavity. The tumor may obstruct one or both nostrils.
• Exophthalmos: outward protrusion of the eyeball
• Exopthalmos: Abnormal protrusion of the eyeball from the orbit.
• Eye bleeding: Bleeding that occurs from the eye
• Eye cancer: A malignancy that affects the eye
• Eye pain: Pain affecting the eye
• Eye symptoms: Symptoms affecting the eye
• Fetal PCB syndrome: A condition that occurs in infants born to mothers exposed to PCB (polychlorinated biphenyl) during pregnancy. The chemical is believed to affect calcium metabolism. In 1968 many cases occurred in Japan following consumption of cooking rice oil contaminated with PCB.
• Fibrosis of extraocular muscles, congenital with synergistic divergence: A rare congenital eye movement disorder involving droopy eyelids and limited eye movement. The condition is caused by the dysfunction of the muscles that control eye movement or by the innervation of these muscles by the third cranial nerve (oculomotor nerve). The condition is not progressive.
• Filippi Syndrome: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
• Fine-Lubinsky syndrome: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
• Fryns macrocephaly: A rare syndrome characterized by a large head, seizures, spasticity, weakness and unusual facial appearance.
• Gila Lizard poisoning: Gila lizards are one of the few venomous species of lizard. They are found in parts of America such as Arizona, California, Nevada and Mexico. Envenomation by lizards is very uncommon but these venomous lizards can cause life-threatening symptoms. Gila lizards tend to hold on with their jaws while biting and the longer the jaws remain attached to the skin, the more severe the poisoning may be.
• Glaucoma, hereditary: An inherited form of glaucoma - includes congenital glaucoma, juvenile glaucoma and adult open-angle glaucoma.
• Goiter: An enlargement of the thyroid gland
• Graves Disease: A condition which is an autoimmune disease that affects the thyroid resulting hyperthyroidism
• Graves disease: A condition which is an autoimmune disease that affects the thyroid resulting hyperthyroidism
• Hajdu-Cheney Syndrome: A rare genetic disorder characterized by early tooth loss, relaxed joints, small stature and bone abnormalities.
• Hand-Schüller-Christian Syndrome: A group of blood disorder involving excess production of histiocytes (type of immune cell) throughout the body. Accumulation of histiocytes results in non-cancerous growths which can damage organs and other body tissues such as bones. Symptom vary hugely and depend on location and size of tumor growths.
• Hashimoto's thyroiditis: A progressive disease of the thyroid which leads to degeneration and hypothyroidism
• Holoprosencephaly - caudal dysgenesis: A very rare syndrome where the tailbone and the portion above the tailbone (coccyx and sacrum) fail to develop. The brain also fails to divide into two lobes resulting in a single-lobed brain
• Hyperthyroidism: The excessive activity of the thyroid gland
• Iida-Kannari syndrome: A rare congenital disorder characterized by joint contractures, scoliosis, cleft palate, abnormal ears and premature fusion of skull bones.
• Infantile hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate. The condition becomes noticeably during infancy and involves a period of normal development (about 6 months) followed by deterioration due to bone demineralization.
• Infantile multisystem inflammatory disease: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
• Iodine deficiency: Dietary deficiency of iodine affecting the thyroid.
• Ischiadic hypoplasia - renal dysfunction - immunodeficiency: A rare disorder characterized by abnormal kidney function, immunodeficiency and an underdeveloped
• Kaplan-Plauchu-Fitch syndrome: A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.
• Kleeblattschaedel syndrome: A very rare syndrome characterized mainly by a head the is somewhat cloverleaf shaped.
• Kosztolanyi syndrome: A very rare syndrome characterized mainly by severely retarded development, long thin fingers, mental retardation and skull and facial abnormalities.
• Langerhans Cell Histiocytosis: A condition which is characterized by proliferation of Langerhans cells
• Larsen-like osseous dysplasia - dwarfism: A very rare syndrome characterized mainly by bone abnormalities, joint dislocations, unusual facial appearance and dwarfism.
• Lowry syndrome: A rare disorder characterized by the premature fusion of skull bones, absent or defective lower leg bone (fibula) and various other abnormalities.
• Lowry-Maclean syndrome: A very rare syndrome characterized mainly by mental retardation, retarded growth, glaucoma, congenital heart defects and premature fusion of skull bones.
• Lymphadenosis benigna orbitae: A rare disorder involving a tumorous growth in the eye orbit.
• MN1: A rare genetic defect that can cause meningiomas to develop. A meningioma is a tumor of the meninges which is a membrane that encloses the brain and spinal cord The genetic defect occurs on chromosome 22. The tumor is usually slow-growing and benign.
• Machado-Joseph Disease: Rare genetic muscle disease causing muscle weakness.
• Malignant Teratocarcinosarcoma: A rare type of cancer that involves connective (bone, cartilage, fat) and epithelial (skin and lining of internal organs) tissue and tends to be of a large size. It often tends to occur in the nose, pharynx and sinus areas. Symptoms are determined by the size and location of the tumor.
• Malignant hypertension: Malignant hypertension is a condition characterized by very high blood pressure and swelling of the optic nerve. This type of hypertension is more common in people with kidney problems such as narrowed kidney blood vessels. The condition is a medical emergency which can cause organ damage if not treated promptly.
• Melnick-Needles syndrome: A rare genetic bone disorder characterized by skeletal abnormalities and characteristic facial abnormalities.
• Meninges cancer: A disorder where a cancerous malignancy is found in the meninges of the brain
• Microcephalic osteodysplastic primordial dwarfism types 1 and 3: Microcephalic osteodysplastic primordial dwarfism types 1 and 3 were originally regarded as separate conditions but it was recently concluded that they were different expressions of the same condition. The main differences between the two forms is a difference in the radiological bone anomalies. The condition is characterized mainly by bone abnormalities, short stature and a small head.
• Microcephalic osteodysplastic primordial dwarfism, type 1: A form of dwarfism associated with brain and skeletal abnormalities.
• Microcephaly - cervical spine fusion anomalies: A very rare syndrome characterized mainly by a small head and fused neck vertebrae.
• Microcephaly, corpus callosum dysgenesis and cleft lip-palate: A rare disorder characterized by a small head, abnormal brain development and a cleft lip and palate.
• Mucormycosis: An infectious disease caused by fungus from the order Mucorales which is normally found in the soil and in decaying plant matter. Transmission is usually through the inhalation of spores. It is generally harmless to healthy individuals but can cause infection in patients who are immunocompromised or who have a serious chronic illness such as uncontrolled diabetes. Symptoms and severity can vary considerable depending on the part of the body the infection occurs in - gastrointestinal tract, skin, lungs, central nervous system, eye orbit and the paranasal sinuses.
• Multicentric osteolysis - nodulosis - arthropathy: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
• Multifocal fibrosclerosis: A rare disorder characterized by the development of fibrous tissue that can occur in various parts of the body such as the retroperitoneum, mediastinum, eye area, bile ducts and thyroid gland. The severity and range of involvement is variable. There is no obvious cause for the condition.
• Möller-Barlow disease: Vitamin C deficiency in infants.
• NOMID syndrome: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
• Naguib syndrome: A rare syndrome characterized mainly by wide-set eyes, hypospadias and extra fingers.
• Nakajo syndrome: A very rare syndrome characterized mainly by
• Nasopharyngeal carcinoma: A malignant cancer that occurs in the nasopharynx area which is the upper part of the throat. Often there are no symptoms until the cancer has metastasized to other parts of the body such as the neck.
• Neu-Laxova Syndrome: A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage.
• Nodulosis-arthropathy-osteolysis syndrome: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
• OSMED, Homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Omeprazole - Teratogenic Agent: There is evidence to indicate that exposure to Omeprazole 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.
• Oral facial digital syndrome, type 4: A rare inherited disorder characterized by facial, digital and oral abnormalities. Type IV is differentiated from the other types by the presence of severe shinbone deformity.
• Osteogenesis imperfecta, type IIB: A rare, recessively inherited, lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIB has a different origin of the genetic mutation but the clinical features are similar. Type IIB involves a defect on the CRTAP gene on chromosome 3p22. The main difference is that type IIA tends to involve a small head and white or light blue eyes.
• Osteosclerosis, abnormalities of nervous system and meninges: A very rare syndrome characterized mainly by increased bone density and nervous system abnormalities.
• Oto-spondylo-megaepiphyseal dysplasia, autosomal recessive: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Oto-spondylo-megaepiphyseal dysplasia, homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Otospondylomegaepiphyseal dysplasia: A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features.
• PHACE association: A very rare syndrome characterized mainly by a brain malformation (involving the posterior fossa), large facial hemangioma and eye, heart and artery anomalies.
• Pallister Killian Mosaic Syndrome: Pallister Killian Mosaic Syndrome is 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.
• Pallister Mosaic Syndrome Tetrasomy 12p: 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.
• Partial 7p Monosomy: 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.
• Penfield syndrome: A rare disorder where a tumor pushes against the hypothalamus and causes seizures as well as a variety of other symptoms.
• Periorbital Cellulitis: Bacterial infection of the superficial tissues surrounding the eyes, often following a conjunctivitis or middle ear infection
• Petit-Fryns syndrome: A very rare syndrome characterized mainly by mental retardation, short stature and degeneration or loss of calcium in bones of the hands and feet.
• Pfeiffer Syndrome Type I: 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. Type I is the mildest of the three Pfeiffer Syndrome subtypes.
• Pfeiffer syndrome: 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.
• Piepkorn karp hickoc syndrome: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
• Pierre Robin syndrome - fetal chondrodysplasia: A very rare inherited disorder involving bone growth abnormalities, impaired hearing and a characteristic face.
• Pierre-Robin syndrome with fetal chondrodysplasia: A very rare inherited disorder involving bone growth abnormalities, impaired hearing and a characteristic face.
• Pindborg Tumor: A rare type of slow growing, usually benign tumor that tends to develop in tissues associated with teeth. It is often associated with an impacted tooth. The tumor can be quite aggressive locally but rarely becomes malignant or metastasizes. The exact range and nature of the symptoms will vary depending on the location and size of the tumor.
• Polyarteritis nodosa: A serious blood vessel disease where small and medium-sized arteries become swollen and damaged and are unable to adequately supply oxygenated blood to various tissues in the body. The disease can occur in a mild form or a serious, rapidly fatal form.
• Prolidase deficiency: A rare metabolic disorder where an enzyme (prolidase) deficiency impairs the breakdown of certain proteins which causes a harmful buildup in the body. The type and severity of symptoms are variable and may include skin disorders, retarded motor development, impaired cognitive development, frequent infections and skeletal abnormalities.
• Proptosis: This occurs when there is bulging or displacement of the eye anteriorly.
• Pseudophosphatasia: A rare condition where infants have all the physical features of infantile hypophosphatasia but alkaline phosphatase activity is normal.
• Raine syndrome: A very rare syndrome characterized mainly by increased bone density which ultimately results in death.
• Rasmussen-Johnsen-Thomsen syndrome: A very rare syndrome characterized mainly by the lack of an ear canal opening as well as foot deformities.
• Red eye: Redness of the eyes
• Rhabdomyosarcoma, embryonal: A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor.
• Rhabdomyosarcoma, embryonal 1: A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor. There are two subtypes of this cancer with main difference lying in the genetic origin of the disease. Type 1 is linked to a defect on chromosome 11p15.5.
• Rhabdomyosarcoma, embryonal 2: A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor. There are two subtypes of this cancer with main difference lying in the genetic origin of the disease. Type 1 is linked to a defect on chromosome 11p15.5.
• Rhino-orbito-cerebral phycomycosis: Fungal infection of the brain, nose and brain. Infection usually occurs through inhalation of fungal spores and the condition is result in rapid death. It tends to occur in severely ill patients such as those suffering from severe diabetes, carcinomatosis, ketoacidosis or bacterial infections.
• Rhinocerebral mucormycosis: A rare opportunistic infection that tends to occur mainly in the brain and sinuses. The condition is usually fatal and generally only affects immunocompromised people such as patients with leukemia, lymphoma or those that have had organ transplants or chemotherapy. The infectious agent is saprophytic fungi.
• Rhinocerebral zygomycosis: An infectious disease caused by fungus from the orders Mucorales and Entomophthorales which are normally found in the soil and in decaying plant matter. The infection differs from mucormycosis which only involves the order Mucorales. Transmission is usually through the inhalation of spores. It is generally harmless to healthy individuals but can cause infection in patients who are immunocompromised or who have a serious chronic illness such as uncontrolled diabetes. Symptoms and severity can vary considerable depending on the part of the body the infection occurs in - gastrointestinal tract, skin, lungs, central nervous system, eye orbit and the paranasal sinuses. Rhinocerebral zygomycosis involves infection of the paranasal sinuses and the central nervous system.
• Rieger Syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities.
• Sanderson-Fraser syndrome: A very rare syndrome characterized by overlapping fingers, abnormally placed urethral opening in males, protruding eyes and Robin association (small jaw and downward displaced tongue).
• Schinzel Giedion Syndrome: A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations.
• Short ribs - craniosynostosis - polysyndactyly: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
• Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
• Sinusitis: Inflammation of the sinus passages (as a symptom)
• Spinocerebellar ataxia, Machado-Joseph type I: A rare genetic disorder (chromosome 14q32.1defect) characterized by early onset of symptoms - ataxia, bulging eyes and extrapyramidal symptoms. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Stanescu syndrome: A rare disorder involving abnormal bone and cartilage development
• Sturge-Weber Syndrome: A rare genetic disorder characterized by excessive blood vessel growth, calcium accumulation inside the brain and seizures.
• Superior orbital fissure syndrome: A neurological condition that can result from a fracture of the orbital fissure which is a cleft that lies behind the nose. The disorder that can also result from facial fractures, cavernous sinus infections or retrobulbar tumors or infections. Damage to the nerves that pass through the orbital fissure causes the symptoms.
• Syndactyly type 1 - microcephaly - mental retardation: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
• Thanatophoric dysplasia, type 1: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge.
• Thanatophoric dysplasia, type 2: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge.
• Thrombosis: Blood clot occurring in a blood vessel
• Thyroid eye disease: Thyroid eye disease is an autoimmune eye condition that, while separate from thyroid disease, is often seen in conjunction with Graves' Disease.
• Thyroid hormone plasma membrane transport defect: Thyroid problems caused by a defect in the transport of a thyroid hormone called T4 (thyroxine) within the body. The thyroid produces excessive hormones to try to compensate for that inability of the body to utilize the hormone.
• Thyroid symptoms: Symptoms affecting the thyroid gland
• Tolosa-Hunt Syndrome: A rare disorder characterized by severe headaches and paralysis and weakness of eye muscles.
• Vagneur Triolle Ripert syndrome: A condition that is characterised by lymphoedema of the lower extremities and recurrent respiratory system problems
• Wegener's granulomatosis: A rare disease involving blood vessel inflammation which can affect the blood flow to various tissues and organs and hence cause damage. The respiratory system and the kidneys are the main systems affected.
• Wiedemann-Tolksdorf syndrome: A syndrome involving mental retardation, speech problems, rapid growth, unusual face and finger and toe anomalies.
• Zygomycosis: An infectious disease caused by fungus from the orders Mucorales and Entomophthorales which are normally found in the soil and in decaying plant matter. The infection differs from mucormycosis which only involves the order Mucorales. Transmission is usually through the inhalation of spores. It is generally harmless to healthy individuals but can cause infection in patients who are immunocompromised or who have a serious chronic illness such as uncontrolled diabetes. Symptoms and severity can vary considerable depending on the part of the body the infection occurs in - gastrointestinal tract, skin, lungs, central nervous system, eye orbit and the paranasal sinuses.

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