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Resources iconSyndromes and Disorders Glossary

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Aicardi Syndrome
Rare congenital disorder which occurs only in females. Characteristic features include absence of the corpus callosum (the structure linking the two cerebral hemisphere of the brain), frequent seizures, and abnormalities of the eyes.
Alport Syndrome
Characterized by hereditary kidney disorders, deafness, and ocular anomalies (e.g., cataracts). Males are more severely affected than females.
Alstrom Syndrome
Rare inherited disorder characterized by diabetes mellitus, obesity, and a progressive loss of vision and hearing which begins in early childhood. Other symptoms may include progressive kidney disease.
Birth defect in which all but the most primitive parts of the brain, skull, and spinal cord fail to form in the embryo.
Apert Syndrome
Rare genetic disorder which is apparent at birth. The syndrome is characterized by skeletal and associated skull malformations of the head, face, hands, and feet.
Decrease in size or wasting away of tissue.
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Bardet-Biedl Syndrome
Inherited rare disorder. Characteristics of this syndrome include mental retardation, degeneration of the retinas of the eyes, kidney abnormalities, delayed sexual development or underdeveloped reproductive organs, obesity, and/or abnormal fingers and toes.
Batten Disease
Progressive degenerative disease which is fatal. The child develops normally until 6-18 months of age and then begins to lose motor and cognitive skills. Seizures, mental retardation, and severe visual impairment occur.
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Cerebral Palsy
Disorder of movement and posture due to a nonprogressive defect of the immature brain.
Very rare hereditary disorder that must include at least four of the following six characteristics: C - coloboma (defect or lesion of the eye), H - heart defect/disease, A - atresia of the choanae, R - retarded growth and development, G - genital abnormalities, E - ear abnormalities and/or deafness.
Cockayne Syndrome
Rare inherited disorder characterized by growth retardation, mental retardation, retinal atrophy, abnormal sensitivity to light, and progressive sensorineural hearing loss of later onset
Cogan Syndrome
Rare eye disorder that occurs most frequently in young and middle-aged females. It usually affects only one eye and develops slowly over time. It is associated with tinnitus, vertigo, and usually deafness.
Congenital Rubella Syndrome
Also known as the German or three day measles. This is caused by the exposure of a fetus to the rubella virus. The areas affected in the fetus include vision, hearing, and heart. The most common vision problems include cataracts, glaucoma, microphthalmia, hypoplasia of the iris, macular lesions, optic atrophy, colobomas, nystagmus, and strabismus. Visual acuity and visual fields are reduced.
Congenital Syphilis
Chronic infectious disease acquired by the fetus in the uterus. Early symptoms include low birth weight, fever, and skin problems. Sensorineural hearing loss of slow progressive nature occurs.
Cornelia de Lange Syndrome
Rare genetic disorder that is characterized by short stature, microcephaly, small hands and feet, distinctive facial appearance including long eyelashes, eyebrows that grow together, upturned nostrils, thin upper lip, low-set ears, and low hairline. The range and severity of symptoms varies across individuals.
Cri-Du-Chat Syndrome
Genetic disorder caused by the loss or partial deletion of the short arm chromosome 5. The more severe the deletion, the lower the height, weight, and intelligence. Vision concerns often include strabismus, myopia, glaucoma, microphthalmus, colobomas, and optic atrophy.
Crigler-Najjar Syndrome
Rare inherited disorder characterized by the absence of an enzyme in the liver. High levels of billirubin result, causing damage to the central nervous system.
Crouzon Syndrome
Rare genetic disorder characterized by malformations of the skull and face, bulging of the eyeballs, widely spaced eyes, underdeveloped upper jaw, and protrusion of the lower jaw.
Cytomegalovirus (CMV)
Herpes type of virus which occurs continuously in the population. Manifestations of this disease may be minimal (e.g., rash and fever) or severe (e.g., microcephaly, mental retardation, and profound sensorineural hearing loss).
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Dandy Walker Syndrome
Rare malformation of the brain that is present at birth. It is characterized by an abnormally enlarged space at the back of the brain which interferes with the normal flow of cerebrospinal fluid. As a result, excessive amounts of fluid accumulate around the brain and cause pressure within the skull, swelling of the head, and neurological impairment.
Diabetes Insipidus
Condition in which blurred vision and a central scotoma (blind spot) appear in one eye. It is treated with the hormone vasopressin.
Down Syndrome
Syndrome characterized by hypotonia, flat facial profile, upwardly slanted eyes, small low-set ears, short stature, mental retardation, small nose with a low nasal bridge, and spots at the periphery of the iris. Individuals with Down Syndrome have an extra chromosome and may have congenital heart problems and hearing loss.
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Layer of cells that form the epidermis of the skin and the surface layer of mucous membranes.
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Familial Exudative Vitreo Retinopathy (FEVR)
Hereditary disorder that affects vision in both eyes, mildly (acuity loss, strabismus, nystagmus) or severely (total retinal detachment).
Fetal Alcohol Syndrome (FAS)
This syndrome is distinguished by congenital birth defects (e.g., growth deficiency, facial malformations, central nervous system problems, major organ system defects). Vision deficits include strabismus, myopia, astigmatism, optic nerve hypoplasia, nystagmus, and glaucoma in adulthood.
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Goldenhar Syndrome
Rare disorder that is apparent at birth. There is a wise spectrum of symptoms and physical features across individuals. These include anomalies of the eyes, ears, mouth, cheekbones, jaw, and vertebrae.
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Hallgren Syndrome
Characterized by an eye disorder and congenital sensorineural hearing loss. Retinitis pigmentosa, progressive ataxia, and mental retardation occur in 25 percent of individuals.
Head Trauma
Injury to the head, especially to the scalp and cranium. The injury may be limited to soft tissue damage or may include the cranial bones and the brain.
Hunter Syndrome
Rare metabolic disorder characterized by a deficiency of an enzyme which breaks down nutrients. As a result, there is an abnormal accumulation of complex carbohydrates in cells within various bodily tissues which causes physical symptoms and abnormalities.
Hurler Syndrome
Rare genetic disorder caused by the deficiency of an enzyme, resulting in the inability to break down complex carbohydrates. It is a form of MPS.
Condition in which dilated cerebral ventricles inhibit the normal flow of cerebrospinal fluid (CSF). The CSF accumulates in the skull and puts pressure on the brain tissue, which includes the optic nerve and visual cortex. Visual functioning varies. Eye conditions include strabismus, nystagmus, refractive errors, optic nerve atrophy, and DVM.
Condition of arrested development in which an organ or other body part remains below the normal size or in an immature state.
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Condition in which the body or a part of the body is invaded by a pathogenic agent which produces injurious effects.
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Kearns-Sayre Syndrome
Rare neuromuscular disorder characterized by heart disease, progressive paralysis of certain eye muscles, abnormal accumulation of colored material on the membrane lining of the eyes which leads to inflammation, degeneration, and wearing away of certain eye structures.
Klippel-Feil Sequence
Rare condition that is apparent at birth. It is characterized by a short and wide neck, low hairline and the back of the neck, reduction in the number of cervical vertebrae, and fusion of the cervical spine.
Klippel-Trenaunay-Weber Syndrome
Rare disorder that is present at birth. It is characterized by abnormal benign growths on the skin, excessive growth of the soft tissue and bone of the limbs, and varicose veins. Individuals may also have purplish-reddish birthmarks. Symptoms vary across individuals.
Kniest Dysplasia
Type of dwarfism characterized by short arms and legs, a round face, swelling and stiffness of the joints, and contractures of the fingers.
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Laurence-Moon-Biedl Sydrome
Hereditary condition consisting of retinitus pigmentosa, mental retardation, hypogonadism, obesity, and polydactyly. The individual first experiences a decrease in night vision, then peripheral vision diminishes, and a loss of central vision follows. Depth perception is poor. Other eye symptoms include cataracts, strabismus, myopia, photophobia, and small eyes.
Leigh Disease
Rare inherited neurometabolic disorder that occurs between the ages of 3 months and 2 years. It is characterized by the degeneration of the brain, spinal cord, and optic nerve. Symptoms include progressive neurological deterioration and loss of previously acquired skills.
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Marfan Syndrome
Inherited disorder of the connective tissue, bones, muscles, ligaments, and skeletal structures. It is characterized by a tall lean body type with long extremities, abnormal joint flexibility, dislocation of the lens of the eye, cataracts, secondary glaucoma, myopia, strabismus, corneal flatness, and nystagmus.
Maroteaus-Lamy Syndrome
Rare genetic disorder caused by the deficiency of enzymes resulting in the inability to metabolize complex carbohydrates. As a result, growth retardation, joint stiffness, abnormalities in the bones of the hands and spine, and coarsening of the facial features occur.
Marshall Syndrome
Rare genetic disorder which is characterized by a flattened nasal bridge, nostrils that tilt upward, widely-spaced eyes, myopia, cataracts, and hearing loss.
Inflammation of the lining surrounding the brain and the spinal chord, which is caused by different organisms such as bacteria or viruses. The central nervous system may be affected, and some loss of sight or changes in vision may occur (e.g., strabismus, decreased acuity, cortical visual impairment, and photophobia due to changes in the sizes of the pupils.)
Meniere's Syndrome
Disorder of the inner ear that is marked by recurrent attacks of dizziness, tinnitus, and deafness (Merriam-Webster's Collegiate Dictionary).
Characterized by an exceptionally small head (head circumference is more than two standard deviations below the average size).
Moebius Syndrome
Rare developmental disorder that is characterized by facial paralysis at birth. There are abnormalities of the facial muscles and jaw as a result of absent or diminished facial nerve development. There may also be abnormalities of the mouth and face and malformations of the limbs.
Morquio Syndrome
Rare genetic disorder caused by the deficiency of enzymes, resulting in the inability of the body to metabolize complex carbohydrates. As a result, bony abnormalities of the head, chest, hands, knees, and spine may occur.
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Neonatal Herpes Simplex
Rare disorder which is transferred by a parent with oral or genital herpes to offspring before, during, or shortly after birth. The disorder can range from mild to severe.
Neural Tube Defects
Congenital defect caused by failure of the neural tube to close during embryonic growth such as spinal bifida, cleft lip, and cleft palate.
NF1 - Neurofibromatosis
Inherited disease characterized by benign tumors that may occur anywhere in the body, including the eyelids and orbital portion of the optic nerve. Brown spots and developmental anomalies (especially in the bones, muscles, and abdominal organs) occur. Curvature of the spine can develop.
NF2 - Bilateral Acoustic Neurofibromatosis
Rare genetic disorder that is characterized by benign tumors of the acoustic nerve. Symptoms may include unsteady gait, dizziness, headache, facial numbness, tinnitus, and increasing deafness.
Norrie Disease
Rare form of sex-linked hereditary blindness which occurs in newborn males. It is characterized by retinal detachment and may be associated with mental retardation, diabetes, short stature, and/or progressive hearing loss.
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Optico-Cochleo-Dentate Degeneration
Eye and nervous system disorder which is characterized by progressive visual and sensorineural hearing loss as well as progressive spastic quadriplegia.
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Pfieffer Syndrome
Rare disorder characterized by abnormalities of the head and face, malformations of the fingers and toes, and/or additional physical abnormalities.
Pierre-Robin Syndrome
Craniofacial-skeletal disorder characterized by cleft soft palate, large jaw area, external ear malformations, and dental anomalies. Eye conditions include glaucoma, neurofibromatosis, retinoblastoma, and colobomas.
Genetic disorder characterized by failure to grow and gain weight during infancy, feeding problems, short stature, low muscle tone, and genital abnormalities. Obesity may develop between the ages of 6 months and 6 years. Individuals have characteristic facial features including almond-shaped eyes, a thin upper lip, and full cheeks. Additional abnormalities may include strabismus, small hands and feet, curvature of the spine, and mild to severe mental retardation.
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Refsum Syndrome
Rare hereditary disorder of lipid metabolism in which phytanic acid cannot be broken down. Symptoms may include retinitis pigmentosa, degenerative nerve disease, ataxia, and abnormalities of the bones and skin.
Infectious disease known as German measles. When pregnant women in the first trimester contract rubella, it affects the fetus in the areas of vision, hearing, and heart.
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Smith-Limli-Opitz Syndrome
Hereditary developmental disorder characterized by nostrils that tilt forward, drooping eyelids, webbing between the second and third toes, small stature, male genital abnormalities, and mental retardation.
Stickler Syndrome
Genetic disorder characterized by congenital abnormalities of the eye, small jaw, and cleft palate. Bone abnormalities and degenerative changes in some joints may occur early in life.
Sturge-Weber Syndrome
Congenital disease characterized by three major symptoms including excessive blood vessel growth, intracranial calcification, and seizures. Facial birth marks usually appear on one side of the face.
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Tay-Sachs Disease
Progressive nervous system disorder characterized by deafness, blindness, and seizures. The disease is fatal, usually by the age of 4.
TORCH Syndrome
Syndrome characterized by a variety of eye conditions, which, in turn, may result in such things as acuity and field loss. TORCH is an acronym for Toxoplasmosis, Other agents, Rubella, Cytomegalovirus, and Herpes simplex.
Infectious disease caused by a parasitic organism and can be acquired or present at birth. Lesions of the central nervous system occur, which lead to blindness brain defects, and other serious conditions.
Treacher-Collins Syndrome
Rare inherited disorder characterized by abnormalities of the head and face, including flattened area around the cheekbones, small mandible, malformation of the external ears, dental abnormalities, and cleft palate. Affected individuals have a conductive hearing loss.
Trisomy 13
Rare chromosomal disorder in which the range and severity of associated symptoms vary across individuals. These symptoms may include small wide-set eyes, cleft lip and palate, extra fingers and toes, scalp defects, malformed low-set ears, microcephaly, mental retardation, kidney malformations, and congenital heart defects.
Trisomy 18
Rare chromosomal disorder in which symptoms vary across individuals. These symptoms may include malformations of the head and face, small jaw, malformed low-set ears, widely spaced eyes, drooping of upper eyelids, malformations of the hands and feet including overlapped flexed fingers, congenital heart defects, undescended testes, growth deficiency, feeding and breathing difficulties, and mental retardation.
Tuberous Sclerosis
Rare genetic neurological disorder characterized by seizures, mental retardation, and skin/ eye lesions. There my be tumors in the eyes, and visual functioning can vary depending on the size and severity of the tumors. There may be decreased visual acuity, retinal scarring, retinal detachment, myopic, field loss, or glaucoma.
Growth of tissue characterized by progressive, uncontrolled proliferation of cells. It may be localized or invasive, benign or malignant.
Turner Syndrome
Rare chromosomal disorder which affects females. It is characterized by short stature, lack of sexual development, broad chest with widely spaced nipples, webbed neck, congenital hear defects, and kidney abnormalities.
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Usher Syndrome
Inherited recessive genetic disorder characterized by sensorineural hearing impairment, present at birth or shortly thereafter, and a progressive loss of field due to retinitis pigmentosa. It accounts for more than 50% of all cases of deafblindness in the Unties States.
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Viral Infection
Infection caused by a virus; examples include meningitis and encephalitis.
Vogt-Koyanagi-Harada Syndrome
Rare disease that affects the eyes, ears, skin, and covering of the brain and spinal cord. The main symptom is rapid loss of vision. There may be sever headaches,vertigo, nausea, drowsiness, loss of hearing, loss of hair and skin color, and whitening of the hair and eyelashes.
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Waardenburg Syndrome
Congenital genetic disorder which varies across individuals. Characteristics may include facial abnormalities, irises of different colors, diminished coloration of the hair and skin, white forelock, wide nasal bridge, and a sensorineural hearing loss.
Wildervanch Syndrome
Rare genetic disorder that primarily affects females. It is characterized by retraction of the eyeball, abnormalities of the eye movements, and congenital sensorineural hearing loss. Physical abnormalities may also be present.
Wolf-Hirschhorn Syndrome
Rare chromosomal disorder characterized by wide-set eyes, broad or beaked nose, microcephaly, low-set malformed ears, heart defects, seizures, and mental and growth deficiencies.
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