Glossary for Cloudy vision

Medical terms related to Cloudy vision or mentioned in this section include:

• $18p minus syndrome$: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
• $2q deletion$: 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.
• Absent corpus callosum - cataract - immunodeficiency: A rare syndrome characterized by immunodeficiency, cleft lip or palate, cataract, reduced pigmentation and brain abnormalities.
• 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.
• Adolescent cataract and infertility syndrome: A rare syndrome characterized mainly by cataracts and infertility in male adolescents.
• Aging: The medical conditions from getting older.
• Akaba-Hayasaka syndrome: A very rare syndrome characterized mainly by a prominent forehead, cloudy corneas, low nasal bridge, underdeveloped chest and short limbs.
• Albright's hereditary osteodystrophy: A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate.
• Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
• 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.
• Amaurosis congenita of Leber: A rare genetic eye disorder characterized by blindness at birth or within years as well as other eye abnormalities.
• Andogsky's syndrome: A condition characterized by chronic eczema-like skin lesions which develop during childhood and cataracts which develop in early adulthood. The main areas affected by the skin lesions are the neck, elbows and knees.
• Aniridia - ptosis - mental retardation - obesity, familial: A rare familial disorder characterized by eye abnormalities, mental retardation and obesity.
• Aniridia ptosis mental retardation obesity familial type: A rare familial disorder characterized by eye abnormalities, mental retardation and obesity.
• Aniridia, type 2:
• Arachnodactyly - ataxia - cataract - aminoaciduria - mental retardation: A rare syndrome characterized mainly by congenital cataracts, ataxia, mental retardation, abnormal amino acid metabolism and long, thin fingers.
• Autoimmune Lymphoproliferative Syndrome: An inherited autoimmune condition characterized by proliferation of lymphocytes and autoimmunity against the body's own blood cells resulting in premature death of certain blood cells.
• Bardet-Biedl syndrome, type 1: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13.
• Bardet-Biedl syndrome, type 10: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q.
• Bardet-Biedl syndrome, type 11: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1.
• Bardet-Biedl syndrome, type 12: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27.
• Bardet-Biedl syndrome, type 2: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21.
• Bardet-Biedl syndrome, type 3: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13.
• Bardet-Biedl syndrome, type 4: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3.
• Bardet-Biedl syndrome, type 5: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31.
• Bardet-Biedl syndrome, type 6: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12.
• Bardet-Biedl syndrome, type 7: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27.
• Bardet-Biedl syndrome, type 8: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11.
• Bardet-Biedl syndrome, type 9: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14.
• Bhaskar-Jagannathan syndrome: A very rare syndrome characterized primarily by long, thin fingers, amino acids in the urine, cataracts (during infancy), incoordination and delayed development.
• Birth symptoms: Symptoms related to childbirth.
• Blindness: Loss of sight in one or both eyes
• Blurred vision: Blurriness of vision or images.
• Brachymesomelia-renal syndrome: A rare syndrome characterized by kidney abnormalities and forearm and lower leg deformity. The condition describes a single reported case.
• Brain symptoms: Symptoms affecting the brain
• CCFDN: A rare, recessively inherited syndrome characterized by cataracts during infancy, unusual facial appearance and neuropathy.
• 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: A condition which is characterized by an opacity of the lens of the eye
• Cataract - aberrant oral frenula - growth delay: A rare syndrome characterized by cataracts, growth problems and abnormal mouth tissue (frenulum).
• Cataract Hutterite type: An inherited form of cataract that occurs in children and is not associated with any other abnormalities.
• 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.
• Cataract, alopecia, sclerodactyly: A rare disorder characterized by cataracts, lack of hair and skin changes in the hands and feet.
• Cataract, autosomal recessive congenital 2: A rare, recessively inherited, genetic eye disorder involving congenital cataracts (cloudy eye lens).
• Cataract, congenital, Volkmann type: A dominantly inherited form of cataract that was observed in a family named Volkmann. Cataract surgery was required in most cases within the first 20 years of life.
• Cataract, congenital, with microcornea or slight microphthalmia: A rare genetic eye disorder characterized by congenital cataracts (cloudy eye lens) and slightly small eyes or small corneas.
• Cataract, microphthalmia and nystagmus: A rare genetic eye disorder characterized by congenital cataracts (cloudy eye lens), small eyes and rapid, involuntary eye movements.
• Cataract-glaucoma: A rare syndrome characterized by congenital cataracts in both eyes as well as glaucoma which tends to occur between the ages of 10 and 40.
• Cataract-microcornea syndrome: A rare disorder characterized mainly early onset cataracts, small corneas and myopia.
• Cataracts: A condition which is characterized by opacities of the lens of the eyes
• Cennamo-Gangemi syndrome: A rare syndrome characterized by small eyes, congenital cataracts and hydrocephalus (buildup of fluid in the brain).
• Cerebellum agenesis - hydrocephaly: A rare brain disorder which manifests as reduced muscle tone, ataxia, cataracts and mental retardation.
• Chemical poisoning - Dinitrophenol: Dinitrophenol is a chemical that has various applications: herbicide, pesticide, fungicide, acaricide, manufacture of dyes and wood 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 - Titanium: Titanium is an element used mainly in alloys. 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.
• Chemke-Oliver-Mallek syndrome: A very rare syndrome characterized mainly by eye and finger and toe abnormalities.
• Chondrodysplasia Punctata, Rhizomelic type: A rare genetic disorder characterized by slow growth, mental deficiency, characteristic facial features and skeletal deformities particularly of the limbs, spine and pelvis.
• Chondrodysplasia punctata: An inherited skeletal abnormality where bone calcifications near joints and other disorders result in growth retardation, short limbs, cataracts and an abnormal nose shape. Also called chondrodystrophia calcificans congenital or congenital stippled epiphyses.
• Chondrodysplasia punctata, non rhizomelic type: A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The non-rhizomelic forms tend to be milder, with minimal or no upper limb shortening. The Joints in the ends of the arms and legs tend to be more affected. Some of the specific disorders in this group are Conradi-Hunermann disease, Happle's chondrodysplasia and brachytelephalagnic chondrodysplasia punctata. The range of symptoms and severity may vary between disorders.
• Chondrodystrophia calcificans congenita: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Chondrodystrophia punctata, autosomal dominant: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Chorea, remitting with nystagmus and cataracts: A rare inherited disorder characterized by chorea and involuntary horizontal eye movements that start in infancy and improve or disappear by the age of 10. Cataracts were also present.
• 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 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 11, deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is 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 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 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, 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 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 21q, partial deletion: A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted.
• Chromosome 3/B translocation: A rare chromosomal disorder involving a translocation of genetic material of chromosome 3.
• Chromosome 6p partial duplication: A rare chromosomal disorder involving duplication of part of the short arm (p) of chromosome 6 resulting in various abnormalities depending on the amount and location of the duplicated genetic material.
• Classic galactosemia: Rare serious genetic defect in galactose metabolism.
• Cleft lip - palate - mental retardation - corneal opacity: A very rare syndrome characterized mainly by mental retardation, cleft lip and palate and cloudy corneas.
• Closed-angle glaucoma: A severe form of glaucoma needing emergency treatment to avoid blindness.
• Cloudy vision in children:
• Coats Disease: A rare condition where a small group of dilated blood vessels (telangiectasia) form in the retina of one eye and can result in retinal detachment. It is believed to be a more severe form of Leber military aneurysm.
• Cockayne syndrome type 1: A rare inherited condition characterized by short stature, light sensitivity and a prematurely aged appearance. Type 1 is an early-onset form and involves progressive symptoms that usually start after 1 year of age.
• Congenital Toxoplasmosis: Fetal infection with toxoplasmosis.
• Conjunctivitis: A condition which is characterized by inflammation of the conjunctiva
• Conradi-Huenermann Syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Conradi-Hunermann syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Corneal dystrophy - perceptive deafness: A very rare syndrome characterized by eye problems and deafness. Hearing starts to deteriorate during the 20's and 30's.
• Corneal dystrophy and perceptive deafness: A very rare syndrome characterized by eye problems and deafness. Hearing starts to deteriorate during the 20's and 30's.
• Corneal dystrophy crystalline of Schnyder: A rare disorder characterized by cloudy corneas believed to be due to abnormal lipid deposits in the corneas. A distinctive sign of the condition is the presence of a light-colored ring around the cornea due to abnormal lipid deposit (arcus juvenilis).
• Cotton wool spots: Opacities in the retina of a white or gray colour.
• Crome syndrome: A very rare disorder characterized by various abnormalities including mental retardation, epilepsy and eye and kidney problems.
• DOC 12 (Neutral Lipid Storage Type): A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
• De Barsy Syndrome: A rare inherited disorder characterized by loose, inelastic skin, involuntary limb movements, cloudy corneas and other abnormalities.
• Deafness - cataracts - skeletal anomalies: A rare disorder characterized by deafness, cataracts and skeletal abnormalities as well as other anomalies.
• Deafness progressive cataract autosomal dominant: A rare dominantly inherited disorder characterized by deafness and progressive cataracts. The deafness is caused by degeneration of a part of the inner ear . The hearing loss can start in the 3rd decade of life and cataracts occur before the 5th decade.
• Deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Deletion 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.
• Diabetic hypoglycemia: Low blood sugar attack from insulin or diabetes medications
• Disorder of Cornification 12 (Neutral Lipid Storage Type): A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
• Double vision: Seeing two images, overlapping images, shadow images, or ghost images (diplopia)
• Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
• Dup (1) (q25-qter) and del (18p): A very rare chromosomal disorder (single reported case) where the end portion of the long arm (q25-qter) of chromosome one is duplicated and the short arm of chromosome 18 is missing.
• Ectodermal dysplasia: A group of rare inherited conditions which affect the ectodermal skin layer which includes the skin, hair, teeth and nails.
• Ehlers-Danlos syndrome, Beasley Cohen type: A rare condition where mental retardation, deafness and cataracts are associated with a connective tissue disorder called Ehlers-Danlos syndrome.
• Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
• Eye cancer: A malignancy that affects the eye
• Eye infection: AN infection that occurs in the eye
• Eye symptoms: Symptoms affecting the eye
• Fabry's Disease: An inherited metabolic disorder where phospholipids are deposited mostly in the blood vessels as well as other tissues and organs. Symptoms include skin lesions, small red spots on the abdomen, thighs and scrotum, fever, peripheral edema, hypertension and renal failure. Also called angiokeratoma corporis diffusion, Anderson's syndrome, Anderson-Fabry disease, Morbus Anderson-Fabry, Ruiter-Pompen syndrome or Sweeley-Klionsky disease.
• Familial Granulomatosis, Blau type: A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions.
• Familial, Systemic, Juvenile Granulomatosis: A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions.
• Fechtner syndrome: A rare condition characterized by the presence of large blood platelets, kidney inflammation, deafness and abnormal leukocytes.
• Floaters: Floating spots or spidery webs in front of the eyes
• Flynn-Aird syndrome: A rare inherited disorder where neurological degeneration causes symptoms such as dementia, ataxia, eye problems, skin disorders and muscle wasting.
• Francois dyscephalic syndrome: A rare genetic disorder characterized by very small stature, microphthalmia, small pinched nose and hypotrichosis.
• Galactosemia I: A rare inherited disorder where deficiency of a particular enzyme (galactose-1-phosphate uridyl transferase) prevents the metabolism of galactose which is a sugar component of milk. Ranges from milk intolerance in mild cases to death in severe untreated cases.
• Galactosemia III: A rare inherited disorder where deficiency of a particular enzyme (UDP-Galactose-4-epimerase) prevents the metabolism of galactose which is a sugar component of milk. The condition may vary from mild to severe.
• Gangliosidosis, generalized GM1 type 3: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I.
• Gaucher-like disease: A very rare inherited condition where the body's inability to bread down a certain fat (glucocerebroside) causes it to accumulate in body tissues and organs where it can cause damage. Gaucher-like disease is a sub-type of Gaucher disease which primarily affects the heart.
• Glaucoma: A condition which affects the eye and characterized by an increase in the intraocular pressure
• Gonorrhea: Common sexually transmitted disease often without symptoms.
• Gottron's syndrome: A very rare inherited disorder characterized by the gradual loss of fatty tissue under the skin which results in a prematurely aged appearance. The hands and feet tend to be the most affected with thin, delicate skin.
• Granulomatous arthritis of childhood: A rare chronic inflammatory condition that starts during early childhood and is characterized by arthritic joints, uveitis and a skin rash that forms on the trunk and limbs.
• Halo around lights: Where a person when looking into lights sees a halo surround them
• Herpes, Neonatal - Mucocutaneous and Ocular Infection: Mucocutaneous herpes infection in neonates is a herpes infection of the mucous membranes within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions.
• Hornova-Dlurosova syndrome: A rare disorder characterized by mental retardation and amyloid (abnormal protein) deposits in the eyelids and gums.
• Hypoglycemia: Low blood sugar levels
• Hypoparathyroidism familial isolated: A rare familial condition involving low levels of parathyroid hormone which upsets the body's ability to regulate calcium and phosphate. The severity of symptoms is determined by the how low the parathyroid hormone level is.
• IBIDS syndrome: A rare inherited skin disorder characterized by red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as PIBIDS syndrome but doesn't involve photosensitivity.
• Ichythosiform Erythroderma with Leukocyte Vacuolation: A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
• Impaired vision: Reduced or degraded vision.
• Inborn amino acid metabolism disorder: A group of inherited disorders where the body is not able to metabolize amino acids consumed in the diet. Amino acids are a part of carbohydrates, fats and proteins and are metabolized in order to provide energy or to make other needed compounds. There are many steps involved in metabolism and the severity can be greatly variable depending on the exact nature of the disorder.
• Infection: Infections as a symptom.
• Injury: Any damage inflicted in the body
• Keratomalacia: An eye condition caused by severe vitamin A deficiency and characterized by dryness and ulceration of the cornea.
• Kniest dysplasia: A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities.
• Krause syndrome: A syndrome involving the abnormal development of the eye and cerebral portion of the brain. It most often occurs in premature infants or an infant from a multiple birth. It is believed to possibly result from intercurrent infections in the mother, placental abnormalities and hemorrhages that occur during the second trimester of the pregnancy.
• Langer-Nishino-Yamaguchi syndrome: A rare disorder characterized by deformed forearms and lower legs, cloudy corneas and enlarged kidneys. In the reported case, death occurred in the newborn period from kidney and heart failure.
• Lanzietri syndrome: A rare genetic disorder characterized by head and face abnormalities, dwarfism and absence of an lower leg bone (fibula).
• Low-level radiation exposure: Tissue injury can result from exposure to radiation. The radiation dose, rate of dosing and tissues irradiated will determine the severity and type of symptoms. The effects may be chronic, delayed or acute. Low-level radiation is usually associated with delayed effects.
• Lowe oculocerebrorenal syndrome: A rare inherited metabolic disorder characterized primarily by eye and bone abnormalities, mental retardation and kidney problems.
• Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
• Marshall syndrome: A rare genetic disorder characterized by a distinctive face and vision and hearing impairment.
• Mental retardation, X-linked, Armfield type: A rare disorder characterized by mental retardation, seizures, short stature, small hands and small feet. The disorder is X-linked and hence only males exhibit the symptoms. The genetic defect occurs on chromosome Xq28.
• Mental retardation, X-linked, Seemanova type: A rare X-linked disorder characterized by mental retardation, retarded growth and small genitals. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
• Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
• Microphthalmia - mental deficiency: A very rare syndrome characterized mainly by small eyes and mental deficiency.
• Microphthalmis, isolated, with cataract 1: A rare genetic eye disorder characterized by congenital cataracts (cloudy eye lens) and small eyes.
• Microphthalmis, isolated, with cataract 4: A rare genetic eye disorder characterized by congenital cataracts (cloudy eye lens) and small eyes. The various types differ in the origin of the genetic defect. Type 4 involves a defect on chromosome 22q11.2-q13.1. Type 1 involves a defect on chromosome 16p13.3 and type 2 involves chromosome 14q23.
• Monosomy 1p36: 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 range and severity of symptoms is variable with some cases being relatively mild.
• Mucoepithelial dysplasia, Witkop type: A rare inherited disorder primarily involving mucosal lesions throughout the body as well as skin, hair and lung problems.
• Mucolipidosis type 3 A: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (glycoproteins and glycolipids) in body tissues due to deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase) needed to process it.
• Mucolipidosis type 4: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (ganglioside and mucopolysaccharide) in body tissues due to the deficiency of an enzyme needed to process it.
• Mucopolysaccharidoses: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
• Mucopolysaccharidosis 1: A rare inherited condition caused by the absence of certain lysosomal enzymes which are needed to break down mucopolysaccharides. Without these enzymes, mucopolysaccharides build up in various body organs and tissues which causes harmful effects. There are three subtypes of the condition: Hurler, Scheie and Hurler-Scheie with Hurler being the most severe and Scheie the mildest.
• Mucopolysaccharidosis I: Disorder of mucopolysaccharide metabolism in infants.
• Mucopolysaccharidosis type 6: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (Arylsulfatase ?) needed to break it down.
• Mucopolysaccharidosis type 7 Sly syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (beta-glucuronidase) needed to break it down.
• Muscle-eye-brain syndrome: A genetic disease characterized by muscle weakness, congenital brain abnormalities and eye problems as well as other defects.
• Myotonic Dystrophy: An inherited disorder characterized by progressive muscle weakness and wasting as well as eye defects, heart abnormalities and other anomalies. The severity of the condition is greatly variable. There are two type of myotonic dystrophy with type 1 being more severe than type 2.
• Myotonic dystrophy, type 2: An inherited disorder characterized by progressive muscle weakness and wasting as well as eye defects, heart abnormalities and other anomalies. The severity of the condition is greatly variable. There are two type of myotonic dystrophy with type 1 being more severe than type 2. Type 2 also tends to affect muscle closer to the trunk e.g. upper leg and shoulders.
• Nathalie syndrome: A very rare condition described in four children of one family. The condition is characterized by wasting of the spine muscles, abnormal heart electrical activity, cataracts, hypogonadism and hearing impairment.
• Nephrosis neuronal dysmigration Syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease. The type and severity of symptoms that can occur is variable.
• Neu-Laxova Syndrome: A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage.
• Oculo-cerebro-acral, (Roberts-like)-ectrodactyly: A rare condition characterized by abnormalities of the eye, brain and extremeties as well as split hand and foot deformities.
• Oculocerebral syndrome with hypopigmentation: A rare inherited disorder involving lack of pigmentation and eye and brain defects caused by central nervous system abnormalities.
• Oculodentoosseous dysplasia recessive: A very rare recessively inherited syndrome characterized mainly by eye, tooth and finger abnormalities. The eye abnormalities tend to be more severe than in the dominant form of the disorder.
• Open-angle glaucoma: Vision damage from a slow chronic buildup of fluid pressure in the eye.
• Osteogenesis imperfecta congenita, microcephaly, and cataracts: A rare genetic connective tissue disorder charactedrized by blue sclerae, cataracts and microcephaly - a lethal form of osteogenesis imperfecta.
• Osteopetrosis lethal: A severe, lethal form of the brittle bone condition called osteopetrosis.
• PIBIDS syndrome: A rare inherited skin disorder characterized by photosensitivity (P), red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as IBIDS syndrome but involves photosensitivity.
• 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.
• Pediatric granulomatous arthritis: A rare chronic inflammatory condition that starts during early childhood and is characterized by arthritic joints, uveitis and a skin rash that forms on the trunk and limbs.
• Pena-Shokeir syndrome Type 2: A rare progressive congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities as well as eye abnormalities.
• Peripheral vision loss: Reduced or lost peripheral vision
• Plasmalogenes synthesis deficiency isolated: A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (peroxisomal dihydroxyacetonephosphate acyl transferase).
• Plasmalogens synthesis deficiency isolated: A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (peroxisomal dihydroxyacetonephosphate acyl transferase).
• Premature aging, Okamoto type: A form of premature aging.
• Proximal myotonic dystrophy: A very rare genetic muscle disorder which is often associated with cataracts, abnormal heart rhythm and infertility. Muscle weakness tends to occur more in muscles closer to the trunk such as the neck, shoulders, hips and upper legs. Pregnancy can exacerbate or initiate symptoms.
• Pseudoinflammatory fundus dystrophy: A rare inherited progressive eye disease.
• Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
• Refsum disease with increased pipecolic acidemia: A rare disorder involving all the clinical features of Refsum disease as well as high blood levels of L-pipecolic acid. Refsum disease is a metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
• Retinis pigmentosa - deafness - hypogenitalism: A very rare syndrome characterized mainly by progressive retinal damage, deafness and genital anomalies.
• Rhizomelic chondrodysplasia punctata, type 1: A rare genetic disorder involving abnormal development of bones which causes abnormal calcification of bones near the joints. The genetic defect is located on chromosome 6q22-q24.
• Rhizomelic chondrodysplasia punctata, type 2: A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (glyceronephosphate O-Acyl transferase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 1q42.
• Rhizomelic chondrodysplasia punctata, type 3: A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (alkyldihydroxyacetonephosphate synthase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 2q31.
• River Blindness: Skin and eye infection caused by the helminth (worm) 'Onchocerca volvulus', transmitted via fly bites and usually seen only in parts of Africa, the Middle East and South America
• Roberts syndrome: A very rare genetic disorder involving a range of physical abnormalities.
• Rubinstein-Taybi like syndrome: A condition characterized by numerous congenital abnormalities including small head, unusual facial features, short stature, broad thumb and big toe and mental retardation.
• Sarcoidosis: Rare autoimmune disease usually affecting the lungs.
• Sattler veil: Swelling of the cornea and vision problems due to insufficient oxygen supply to the surface of the eye usually as a result of wearing contact lenses.
• Schäfer syndrome: A disorder characterized mainly by thickened skin on the palms and soles, white patches in mouth, mental and growth retardation and hair, nail and eye abnormalities.
• Siegler-Brewer-Carey syndrome: A very rare syndrome characterized mainly by cataracts, ear infections, poor absorption by the intestines, respiratory infections and failure to thrive.
• Simpson-Golabi-Behmel syndrome, type 1 (SGBS1): A rare genetic disorder characterized by accelerated growth, a peculiar face and other defects.
• Spastic paraplegia 9, autosomal dominant: A rare disorder characterized by muscle wasting and weakness mainly in the legs, short stature, skeletal abnormalities and cataracts.
• Spinal muscular atrophy - Dandy-Walker complex - cataracts: A rare syndrome characterized by muscle weakness in the ends of the limbs, cataracts and a brain anomaly called a Dandy-Walker malformation.
• Storm syndrome: A rare progressive genetic disorder characterized by premature aging and heart disease which results in premature death.
• Synovitis granulomatous with uveitis and cranial neuropathies: A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions.
• Syphilis: A sexually transmitted disease caused by a bacteria (Treponema pallidum). The condition is often asymptomatic in the early stages but one or more sores may be present in the early stages. Untreated syphilis usually results in remission of visible symptoms but further severe damage may occur to internal organs and other body tissues which can result in death.
• TORCH Syndrome: Infection of a fetus by any of a group of infectious agents which have been transmitted from the mother through the placenta. The infections include toxoplasmosis, rubella, cytomegalovirus, herpes virus, hepatitis and syphilis. The severity and nature of symptoms is determined by the type of infection.
• Tangier disease: A rare disorder characterized by a very low level of HDL (high-density lipoprotein or "good cholesterol") in the blood. The condition occurs because the body lacks the gene to make a certain protein (Apolipoprotein A1) which normally transports fats from tissues to where it is needed.
• Trachoma: Chronic bacterial eye condition in the developing world
• Trichothiodystrophy - sun sensitivity: A rare condition characterized by short brittle hair
• Triglyceride storage disease with impaired long-chain fatty acid oxidation: A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities.
• Unusual facies, osteosarcoma and malformation syndrome: A rare syndrome characterized mainly by an unusual facial appearance, osteosarcoma, hearing problems and other variable abnormalities.
• Van Bogaert disease: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.
• Van Bogaert's disease: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.
• Van Bogaert-Scherer-Epstein Disease: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.
• Venezuelan Equine Encephalitis - Teratogenic Agent: There is strong evidence to indicate that the development of Venezuelan Equine Encephalitis 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 stage of pregnancy that the exposure occurred at.
• Verloes Van Maldergem Marneffe syndrome: A condition that is characterised by dwarfing skeletal dysplasia.
• Vision changes: Any change in vision or sight.
• Vision distortion: Distortions or changes to vision
• Vision loss: Impaired vision or loss of vision
• Visual halo: Seeing halos around objects or lights
• Visual problems: Any problems which might occur that affect ones vision
• Vitamin A deficiency: Dietary deficiency of vitamin A
• Vitreoretinal degeneration: A condition characterised by the degeneration of the vitreous and retina of the eye
• Vitreoretinochoroidopathy dominant: A form of hereditary fundus dystrophy
• WAGR Syndrome: A syndrome that is due to the deletion of chromosome 11.
• Walker-Warburg Syndrome: A rare inherited disorder characterized by brain malformations and retinal and muscle abnormalities.
• Warburg Sjo Fledelius syndrome: A syndrome that is characterised by visual and neurological problems as well as microgenitalia
• Wellesley Carmen French syndrome: A syndrome characterised visual difficulties and growth retardation
• Wellesley-Carman-French Syndrome: A rare syndrome characterized by cataracts, growth problems and abnormal mouth tissue (frenulum).
• Werner syndrome: A form of premature aging where sufferers start aging during adolescence or soon after and appear old by the time they reach their 30's or 40's. Milder forms of the condition may also occur.
• Whitaker syndrome: A condition that usually occurs in childhood caused by an autoimmune polyendocrinopathy
• Wilkie Taylor Scambler syndrome: A syndrome characterised by cataracts with microphthalmia and septal defect
• Wilms tumor - aniridia - genitourinary anomalies - mental retardation: A syndrome resulting from deletion of genetic material from chromosome the short arm of chromosome 11 (11p13). The characteristic symptoms are partial or complete absence of iris, genitourinary anomalies, mental retardation and Wilms' tumor. The specific range and severity of symptoms is variable depending on the size and exact location of the genetic material that is missing.
• Xanthomatosis cerebrotendinous: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.
• Xeroderma pigmentosum, type 7: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type G usually involves severe neurological symptoms.
• Zellweger Syndrome: Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form.

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