TREATMENTS &
RESEARCH

Search the
latest
treatment
information
here.

Dr. Huntley's
Diagnosis
Checklist

Have a symptom?
See what questions
a doctor would ask.
 
Symptoms » Eyelid symptoms » Glossary
 

Glossary for Eyelid symptoms

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

  • $14qter deletion Syndrome$: A very rare genetic condition where a portion at the end of the long arm (q) of chromosome 14 is missing.
  • $18p minus syndrome$: 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.
  • $1q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • $1q terminal deletion$: A rare chromosomal disorder where the terminal part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities.
  • $2p21 deletion syndrome$: This syndrome is a more severe form hypotonia-cystinuria syndrome as a larger portion of genetic material from chromosome 2p21 is deleted. It is characterized by infant seizures, reduced muscle tone, developmental delay, lactic acidosis and unusual facial appearance.
  • $2q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • $3q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • $46,XY chromosome 7 deletion p13-p21$: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
  • Aase-Smith I syndrome: A very rare hereditary syndrome characterized by deformities such as joint contractures, anemia, hydrocephalus and cleft palate.
  • Absence seizure: An epileptic seizure involving momentary loss of consciousness.
  • Acanthamoeba keratitis: Infection of the eye with a microscopic, free-living ameba (Acanthamoeba) that is readily found in the environment - soil, air and water. Infection most often occurs through exposure to contaminated water while wearing contact lenses e.g. swimming or showering in infected waters.
  • Acquired angioedema: A rare disorder characterized by recurring episodes of swelling of parts of the skin or mucous membranes. Sometimes internal organs may be involved. The disorder occurs in patients with lymphoproliferative or autoimmune disorders which result in the dysfunction of a complex blood protein called C1 inhibitor.
  • Acquired angioedema, type 1: A rare disorder characterized by recurring episodes of swelling of parts of the skin or mucous membranes. Sometimes internal organs may be involved. The disorder occurs in patients with lymphoproliferative disorders which affects the function of a complex blood protein called C1 inhibitor.
  • Acquired angioedema, type 2: A rare disorder characterized by recurring episodes of swelling of parts of the skin or mucous membranes. Sometimes internal organs may be involved. Type 2 is an autoimmune disorder where patients develop autoantibodies which destroy the function of C1 esterase inhibitor.
  • Acro-reno-ocular syndrome: A disorder characterized by eye abnormalities, kidney defects and abnormalities of the arm and hand bones.
  • Acrofacial dysostosis Preis type: One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable.
  • Acrofacial dysostosis atypical postaxial: A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features.
  • Acrofacial dysostosis, Palagonia type: One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.
  • Acrofrontofacionasal dysostosis syndrome: A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present.
  • Acromegaloid hypertrichosis syndrome: A rare genetic condition characterized by excess body hair and a coarse face. The severity of the condition is variable.
  • Acromicric dysplasia: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones and facial anomalies.
  • Acute Bokhoror: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute VE: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Viliuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Viliuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Vilyuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Vilyuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Addison-Gull syndrome: A condition where scarring of the liver and bile ducts which results in chronic jaundice, enlarged spleen and liver and yellow skin plaques due to abnormal lipid metabolism.
  • Adenoid cystic carcinoma: A malignant cancer in the form of cysts which may occur in the salivary glands, breast, mucous glands of the respiratory tract and sometimes in vulval vestibular glands. Also called adeoncystic carcinoma, adenomyoepithelioma, cribriform carcinoma or cylindroma.
  • African milk bush poisoning: The African milk bush originated from African and is a shrubby plant with small flowers. The milky sap contains diterpene esters which can cause symptoms if it is eaten or if the sap comes into contact with the skin or eyes. It can cause severe skin irritation and the high toxicity of the sap can cause death if sufficient quantities are eaten.
  • Aicardi syndrome: A rare genetic disorder where the structure connecting the two halves of the brain fails to develop which results in seizures and eye abnormalities .
  • Allergic conjunctivitis: also known as vernal catarrah
  • Allergic dermatitis: A dermatitis that is caused by an allergic response
  • Allergies: Immune system over-reaction to various substances.
  • Alopecia immunodeficiency: A rare syndrome characterized by alopecia and primary immunodeficiency.
  • Alopecia, epilepsy, pyorrhea, mental subnormality: A rare syndrome characterized by alopecia, epilepsy, mental retardation and pus-producing gum and tooth inflammations.
  • 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.
  • Amastia, bilateral, with ureteral triplication and dysmorphism: A very rare disorder characterized mainly by the absence of both breasts, triplicated ureters (normally they are duplicated), facial anomalies and various other defects.
  • Amaurosis hypertrichosis: A rare syndrome characterized by severe retinal dystrophy and excessive growth of hair.
  • Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Amyloidosis of gingiva and conjunctiva mental retardation: A rare disorder characterized by mental retardation and abnormal amyloid deposits in the gums and conjunctiva of the eye.
  • Aneurysm, intracranial berry: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms.
  • Aneurysm, intracranial berry, 1: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 1 is caused by a defect on chromosome 7q11.2.
  • Aneurysm, intracranial berry, 2: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 2 is caused by a defect on chromosome 19q13.
  • Aneurysm, intracranial berry, 3: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 3 is caused by a defect on chromosome 1p36.13-p34.3.
  • Aneurysm, intracranial berry, 4: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 4 is caused by a defect on chromosome 5p15.2-14.3.
  • Aneurysm, intracranial berry, 5: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 5 is caused by a defect on chromosome 2p13.
  • Aneurysm, intracranial berry, 6: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are now six different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases an individuals risk for developing intracranial berry aneurysms. Type 6 is caused by a defect on chromosome 9p21.
  • Aneurysm, intracranial berry, 7: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 7 is caused by a defect on chromosome 11q24-q25.
  • Aneurysm, intracranial berry, 8: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 8 is caused by a defect on chromosome 14q23.
  • Animal allergy: An animal allergy is an adverse reaction by the body's immune system to animals such as cats. The allergy is usually associated with the skin, saliva or urine of the animal. Animals frequently lick themselves which results in saliva sticking to the fur. Thus a person allergic to animals will often react to the fur even if it is not attached to the animal. Frequent washing of the animal may reduce symptoms. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary considerably amongst patients e.g. skin and respiratory symptoms.
  • Aniridia - ptosis - mental retardation - obesity, familial: A rare familial disorder characterized by eye abnormalities, mental retardation and obesity.
  • Anthurium poisoning: Anthuriums have dark, glossy, heart-shaped leaves with glossy, heart-shaped flowers which can be red, white or other colors. The plant contains calcium oxalate crystals which an cause severe mouth pain if eaten. Large amounts would need to be eaten to cause poisoning. Eye and skin irritation can also occur on exposure to the plant.
  • Antley-Bixler Syndrome: A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities.
  • Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis: A rare genetic disorder involving a deficiency of an enzyme (cytochrome P450 oxidoreductase) which causes steroid abnormalities. The condition results in ambiguous genitalia in females due to excessive androgen during fetal growth. Patients can also have the bone symptoms of Antley-Bixler syndrome.
  • Aromatic amino acid decarboxylase deficiency: A rare inborn error of metabolism involving the deficiency of an enzyme (aromatic L-amino acid decarboxylase) needed to process aromatic amino acids. This results in a deficiency of neurotransmitters such as dopamine and serotonin. The condition manifests as movement and neurological problems.
  • Arthrogryposis - spinal muscular atrophy: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Joint contractures are also present at birth.
  • Arthrogryposis distal type II: A very rare syndrome characterized by permanent flexion of the fingers as well as other birth defects.
  • Arthrogryposis due to muscular dystrophy: A rare disorder where a non-progressive muscle disease results in the presence of multiple joint contractures at birth.
  • Ascher syndrome: A rare syndrome characterized by the association of droopy eyelids, double lip and goiter.
  • Ascher's Syndrome:
  • Asthenopia: A condition where weak eye muscles causes the eyes to get tired easily. Symptoms may include eye pain, headache, dim vision, dizziness and nausea.
  • Ataxia, episodic - vertigo - tinnitus - myokymia: A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as tinnitus and vertigo. Stress, exhaustion, sudden movements and exertion may trigger the episodes. It is caused by a defect on chromosome 1q42.
  • Aureobasidium exposure: Aureobasidium is a type of fungus which is capable of causing a variety of diseases in humans. The fungus is most often found in damp places either inside the home or in the environment. It is often pinkish or blackish. It is a rare cause of disease and is more likely to occur in immunosuppressed patients. It can cause infection in just about any part of the body depending on the nature of the exposure (inhalation, wound, ingestion etc.) and as such the type and severity of symptoms can vary considerably.
  • Axenfeld-Schürenberg syndrome: A congenital disorder where paralysis of the third cranial nerve controlling eye movement results in periods of eye paralysis alternating with periods of eye spasms.
  • Babinski-Nageotte syndrome: A rare disorder caused by damage to a part of the brain (medullobulbar transitional area) which causes a variety of neurological symptoms, some of which affect only one side of the body.
  • Baraitser-Winter syndrome: A rare syndrome characterized by a structural eye defect, droopy eyelids and mental retardation.
  • Basilar artery insufficiency syndrome: A range of symptoms caused by impaired blood flow through the basilar artery. The symptoms may come and go according to variation in blood flow through the basilar artery. The blood flow may be impaired by such things as thrombosis, narrowed artery and blood vessel spasms. Symptoms vary depending on the exact location and extent of the artery involvement as well as whether the onset is gradual or sudden.
  • Bell's palsy: A one sided muscle paralysis of sudden onset due to a problem with the facial nerve
  • Benign essential blepharospasm: A neurological disorder where certain eye muscles fail to function properly.
  • Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
  • Bird allergy: A bird allergy is an adverse reaction by the body's immune system to birds. The allergy is usually associated with the skin, feathers or excrement of the bird. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary considerably amongst patients e.g. skin and respiratory symptoms.
  • Bird-headed dwarfism, Montreal type: A rare condition characterized by dwarfism and a characteristic beak-shaped nose.
  • Black widow spider envenomation: The black widow spider bite is toxic to the nerves and can cause serious symptoms. The black widow spider is most commonly found in North America.
  • Blepharitis: A common eyelid inflammation
  • Blepharo facio skeletal syndrome: A very rare syndrome characterized mainly by eyelid, facial and skeletal abnormalities.
  • Blepharochalasis syndrome: An inflammatory, degenerative disease of the eyelid. The disease goes through periods of remission and involves rapid swelling of the eyelids. The eyelid is stretched and becomes thin and wasted over time. There is no discernable cause.
  • Blepharophimosis - nasal groove - growth delay: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
  • Blepharophimosis - nasal groove - growth retardation: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
  • Blepharophimosis - ptosis - esotropia - syndactyly - short stature: A rare disorder characterized by eye anomalies, webbed fingers and short stature.
  • Blepharophimosis - ptosis - syndactyly - mental retardation: A rare genetic disorder characterized by eye anomalies, webbed fingers and mental retardation.
  • Blepharophimosis ptosis esotropia syndactyly short: A rare disorder characterized by eye anomalies, webbed fingers and short stature.
  • Blepharophimosis syndrome Ohdo type: An extremely rare syndrome characterized primarily by mental retardation and eye anomalies. Only a handful of cases have been reported.
  • Blepharophimosis with ptosis, syndactyly, and short stature: A very rare genetic condition characterized by the association of droopy eyelids, webbed digits and short stature.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 1: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, ptosis, epicanthus inversus: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid.
  • Blepharophimosis, ptosis, polythelia and brachydactyly: A rare syndrome characterized mainly by droopy eyelids, short digits, blepharophimosis and accessory nipples (polythelia).
  • Blepharoptosis - aortic anomaly: A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta.
  • Blepharoptosis - cleft palate - ectrodactyly - dental anomalies: A rare genetic disorder characterized primarily by dental symptoms, opening in the roof of the mouth (cleft palate) and missing fingers giving the hands a claw like appearance.
  • Borjeson Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
  • Botulism food poisoning: Extremely dangerous food poisoning requiring medical attention, but not always recognized because of its non-abdominal symptoms.
  • Brachio-Skeletal-Genital Syndrome: A very rare syndrome described in three siblings of related parents. The offspring had skull, skeletal and genital abnormalities.
  • Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
  • Branchial arch syndrome X-linked: A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects.
  • Brown snake poisoning: The Brown snake is a poisonous Australian snake. They are considered one of the most venomous snakes in the world and their bite can result in death without prompt medical attention. The snake venom contains toxins which affect the blood and nerve systems. Children tend to suffer more severe symptoms due to their smaller body size.
  • Brown syndrome: A rare eye disorder characterized by inability to move the affected eye upwards due to an abnormality in the muscle that controls the eye movement. The condition may be congenital or result from an underlying condition or an injury.
  • C1esterase deficiency: C1esterase deficiency is a condition characterized by swelling under the skin or mucosal tissue - the skin, respiratory tract or gastrointestinal tract may be affected. The condition may be inherited or acquired. Symptoms tend to develop over a few days and then abate after two to five days. Swelling attacks may occur fairly regularly e.g. weekly or sporadically e.g. once or twice a year.
  • CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
  • Camera-Marugo-Cohen syndrome: A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body.
  • Camptodactyly - joint contractures and facial skeletal dysplasia: A rare genetic disorder characterized by joint contractures, drooping eyelids, spinal curvature and permanently bent fingers (camptodactyly).
  • Canary allergy: A canary allergy is an adverse reaction by the body's immune system to canaries. The allergy is usually associated with the skin, feathers or excrement from the canary. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary considerably amongst patients e.g. skin and respiratory symptoms.
  • Cantú syndrome: A rare syndrome characterized mainly by excessive growth of hair, enlarged heart and abnormal development of bone and cartilage
  • Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing.
  • Carnevale-Krajewska-Fischetto syndrome: A rare genetic disorder characterized by drooping eyelids, hip problems, undescended testes and developmental delay.
  • Cat allergy: A cat allergy is an adverse reaction by the body's immune system to cats. The allergy is usually associated with the skin, saliva or urine of cats. Cats frequently lick themselves which results in saliva sticking to the fur. Thus a person allergic to cats will often react to the fur even if it is not attached to the animal. Frequent washing of the cat may reduce symptoms. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary considerably amongst patients e.g. skin and respiratory symptoms.
  • Cataract - aberrant oral frenula - growth delay: A rare syndrome characterized by cataracts, growth problems and abnormal mouth tissue (frenulum).
  • Cerebro oculo genital syndrome: A very rare syndrome characterized mainly by brain, eye and genital abnormalities.
  • Cerebro-oculo-dento-auriculo-skeletal syndrome: A very rare syndrome characterized by abnormalities of the brain, eyes, teeth, ears and skeleton.
  • Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
  • Chagas disease: A parasitic infection caused by the protozoa Trypanosoma cruzi and transmitted by insect bites or blood transfusions. The disease primarily involves the heart and gastrointestinal system.
  • Chalazion: Slow-growing swelling of the upper or lower eyelid usually caused by a blockage in the oil glands in the eyelid.
  • Char syndrome: A very rare genetic disorder characterized mainly by an unusual facial appearance, abnormal little fingers and a heart abnormality.
  • Charcot-Marie-Tooth disease with ptosis and parkinsonism: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This particular type of CMT also involves a drooping upper eyelid and parkinsonism.
  • Chemical burn: A chemical burn is a burn caused by a chemical. Symptoms vary depending on the chemical, the part of the body affected and the duration of the exposure to the chemical. Rapid first aid following exposure can limit the damage caused by the chemical. Chemical burns can occur when certain chemicals are accidentally swallowed, spilt on the skin, splashed in the eyes or even breathed in the case of chemical gases.
  • Chemical burn - eyes: Burns to the eye caused by a chemical. Symptoms vary depending on the type, quantity and strength of the chemical involved as well as the duration of the exposure to the chemical and promptness of treatment measures. Immediate medical attention should be sought if chemical burns to the eyes are suspected.
  • Chemical poisoning - Captafol: Captafol is a chemical used mainly as a fungicide. 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 - Hexamethylene Diisocyanate: Hexamethylene Diisocyanate is a chemical used mainly in the production of various products: lacquer, paint, varnish, synthetic rubber, wire insulation, plastic, foams and glue. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning - Paraphenylenediamine: Paraphenylenediamine is a chemical used mainly in photographic developing solutions, hair dye, photocopying and printing ink, black rubber, grease, temporary tattoos and car cosmetics. The chemical may be absorbed through the skin. 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 - Pepper Spray: Pepper Spray is a chemical used mainly in riot control. 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 - Phencyclidine: Phencyclidine is often used as an illegal recreational drug. 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 - Phosphine: Phosphine is a chemical used mainly in pesticides and rodenticides. 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.
  • Chicken allergy: A chicken allergy is an adverse reaction by the body's immune system to chickens. The allergy is usually associated with the skin, feathers or excrement from the chicken. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary considerably amongst patients e.g. skin and respiratory symptoms.
  • Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
  • 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.
  • Choreoathetosis-spasticity, episodic: A dominantly inherited movement disorder characterized by episodes of involuntary movments. Symptom episodes are often triggered by fatigue, alcohol, physical exertion and stress.
  • Chromosome 1, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 10, distal trisomy 10q: A rare chromosomal disorder where the distal portion of the long arm of chromosome 10 is duplicated so there is three copies of it instead of the normal two. The condition is characterized by drooping upper eyelid, short palpebral fissures and camptodactyly.
  • Chromosome 10, trisomy 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
  • Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
  • Chromosome 10p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
  • Chromosome 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 11q partial deletion: A rare chromosomal disorder where a portion of chromosome 11 is missing and is characterized by trigonencephaly, heart defects and a large, carp-shaped mouth.
  • Chromosome 12, 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 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities.
  • Chromosome 13q partial deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 14q terminal deletion syndrome: A very rare genetic condition where a portion at the end of the long arm (q) of chromosome 14 is missing.
  • Chromosome 14q, proximal duplication: A rare chromosomal disorder where duplication of a portion of chromosome 14 causes various abnormalities such as facial dysmorphism, limb abnormalities, mental retardation and short stature.
  • Chromosome 14q, terminal deletion: A very rare syndrome caused by a deletion of a part of the material on chromosome 14 and resulting in various abnormalities such as mental retardation and short fingers.
  • Chromosome 14qter deletion: A very rare genetic condition where a portion at the end of the long arm (q) of chromosome 14 is missing.
  • 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, partial duplication (distal q arm): A rare chromosomal disorder involving an extra copy of genetic material from the distal part of 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 16q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 17 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 19q, partial duplication: A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion.
  • Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 1p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 1 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 2, monosomy 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 2, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • Chromosome 2, trisomy 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 22 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 22 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 22 monosomy syndrome: A rare chromosomal disorder where there is only one copy of chromosome 22 in the body cells instead of two which results in various physical and mental abnormalities.
  • Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
  • Chromosome 22q deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
  • Chromosome 22q13 deletion: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
  • Chromosome 22q13.3 deletion syndrome: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13.3 location which results in various abnormalities.
  • Chromosome 2q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 3, Monosomy 3p2: A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. Symptoms vary according to the exact size and location of the deletion.
  • Chromosome 3, Trisomy 3q2: A rare chromosomal disorder involving the duplication of a portion of the long arm of chromosome 3. The symptoms are determined by the size and exact location of the duplicated portion.
  • Chromosome 3, monosomy 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and polydactyly.
  • Chromosome 3, monosomy 3q21-23: A very rare chromosomal disorder involving the deletion of a part of the long arm of chromosome 3 which results mainly in eye abnormalities.
  • Chromosome 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
  • Chromosome 4 short arm deletion: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 4, trisomy 4q25 qter: A rare chromosomal disorder involving the duplication of a portion of the long arm of chromosome 4.
  • Chromosome 4p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 4p15-16 deletion syndrome: A rare chromosomal disorder where part of the short arm (p15-16) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 5, Trisomy 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 5p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 5p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 5 rather than the normal two copies.
  • Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 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.
  • Chromosome 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 7 deletion p21-p22.1: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • Chromosome 7 ring syndrome: A rare chromosomal disorder where the ends of chromosome 7 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
  • Chromosome 7, Partial Deletion of Short Arm: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
  • Chromosome 7, 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 7, trisomy 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 7, trisomy 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 7p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 7p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 7q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 8, trisomy 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
  • Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Chromosome 8p duplication syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
  • Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
  • Chromosome 8q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Chromosome 9 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities.
  • Chromosome 9, partial trisomy 9p: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9, trisomy: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Chromosome 9, trisomy 9q: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9q duplication: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
  • Chronic Myeloproliferative Disorders: A group of blood cancers where excessive numbers of blood cells are made by overactive or cancerous bone marrow. The number of excess blood cells tends to grow slowly. Examples of such disorders includes chronic myelogenous leukemia, polycythemia vera and essential thrombocythemia. The symptoms are determined by which particular blood cancer is involved.
  • Cleft palate, bilateral choanal atresia, curly hair and congenital hypothyroidism: A rare syndrome characterized by the association of curly, choanal atresia, cleft palate and congenital hypothyroidism.
  • Closed-angle glaucoma: A severe form of glaucoma needing emergency treatment to avoid blindness.
  • Cluster headache: Also known as alarm headache, more common in young men, presents with unilateral headache, rhinorrhea and lacrimation
  • Cobra poisoning: The Cobra is a poisonous snake which can be found in Africa, Asia and other parts of the world. Some cobras are able to spit venom into the victims eye and cause serious symptoms.
  • Cocaine fetopathy: Cocaine use during pregnancy resulting in various birth defects and other abnormalities.
  • Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
  • Coffin-Siris Syndrome: A rare genetic disorder characterized by underdeveloped or absent fifth finger and toenails and coarse facial features.
  • Complete Trisomy 18 syndrome: Complete Trisomy 18 syndrome is the most severe form of Edwards syndrome and involves an extra copy of chromosome 18 in all of the body cells. This severe form causes mental retardation and numerous physical defects that often cause death before birth or during infancy.
  • Complex 1 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.
  • Congenital Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease which usually results from autoimmune dysfunction. Congenital myasthenia gravis however results from a genetic defect. Symptoms tend to become worse during the day with activity and improve after rest or after sleeping. The severity of symptoms may vary.
  • Congenital SMA with arthrogryposis: Type of SMA (genetic motor neuron disease) appearing from birth
  • Congenital heart disease, ptosis, hypodontia, craniosynostosis: A rare birth syndrome characterized by heart disease, droopy eyelids, missing teeth and premature fusion of skull bones.
  • Congenital myasthenic syndromes: A group of genetic condition characterized by abnormal neuromuscular signals. Symptoms tend to become worse with exertion.
  • Conjunctival disorders: Diseases of the conjunctiva in the eye.
  • Conjunctivitis: A condition which is characterized by inflammation of the conjunctiva
  • Coral snake poisoning: The Coral snake is a usually brightly colored, poisonous snake found mainly in America and Africa. The toxicity amongst species is variable. They are considered a shy snake and bites are usually the result of deliberate handling. Coral snakes have to bite for long enough to release the toxin through the fangs so envenomation tends to be rarer than for other snakes who can strike and envenomate rapidly. The snake venom contains toxins which mainly affect the nerve systems. Children tend to suffer more severe symptoms due to their smaller body size.
  • Corneal abrasion: scratch on the corneal surface
  • Corneal flash burns: Corneal injury from bright lights
  • Corneal ulcer: An ulcer occurring in the cornea.
  • Cornel syndrome: A very rare disorder observed in only a few families. The condition is characterized by deafness, heart problems and droopy eyelids
  • Cornelia de Lange syndrome 1: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable.
  • Cornelia de Lange syndrome 2: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 2 is not as severe as type 1 with some of the abnormalities not presenting until later in life or absent altogether. The range and severity of symptoms is variable.
  • Cornelia de Lange syndrome 3: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 3 is a very mild form of the disorder and is typified by mildly unusual facial appearance and no skeletal or limb malformations.
  • Craniodigital syndrome - mental retardation: A very rare syndrome characterized by webbed fingers and toes, mental retardation and skull and facial anomalies.
  • Craniometaphyseal dysplasia dominant type: A rare genetic disorder characterized by head and facial abnormalities as well as mild limb abnormalities. Increased cranial pressure can lead to further complications.
  • Craniometaphyseal dysplasia, autosomal recessive type: A rare genetic disorder characterized by head and facial abnormalities as well as mild limb abnormalities. It is a milder form of the disease than the autosomal dominant type.
  • Creatine deficiency, X-linked: A rare inherited disorder characterized mainly by mental retardation, seizures, short stature and facial anomalies. The disorder is caused by the absence of a compound needed to transport creatine and thus creatine levels may be normal or high, but the body is unable to utilize it.
  • Crown of Thorns poisoning: The Crown of Thorns is a spiny, spreading shrub which can grow to a couple of metres in height. Some species of the plant are poisonous if ingested, can cause a skin reaction in susceptible people and can also cause severe symptoms if eye exposure occurs. Toxicity varies among species.
  • Dacryocystitis: Inflammation of the eye's tear sac
  • Davis-Lafer syndrome: A very rare syndrome characterized mainly by mental retardation and unusual facial features.
  • Deafness conductive - ptosis - skeletal anomalies: A very rare syndrome characterized mainly by deafness, droopy eyelids and skeletal abnormalities.
  • Delayed speech - facial asymmetry - strabismus - ear lobe creases: A very rare syndrome characterized mainly by speech delay, crease in the ear lobe, asymmetrical face and cross-eyed.
  • 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 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Deletion 22q13: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
  • 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.
  • Deletion 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • Deletion 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and extra digits.
  • Deletion 4p: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Deletion 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Dermatomyositis: A muscle disease characterized by chronic muscle inflammation resulting in progressive muscle weakness and a characteristic rash.
  • Dermo-odontodysplasia: A very rare syndrome characterized mainly by tooth, skin, hair and nail abnormalities.
  • Diabetes insipidus, diabetes mellitus, optic atrophy: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
  • Dog allergy: A dog allergy is an adverse reaction by the body's immune system to dogs. The allergy is usually associated with the skin, saliva or urine of dogs. Dogs frequently lick themselves which results in saliva sticking to the fur. Thus a person allergic to dogs will often react to the fur even if it is not attached to the dog. Frequent washing of the dog may reduce symptoms. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary considerably amongst patients e.g. skin and respiratory symptoms.
  • Dopamine beta hydroxylase deficiency: A very rare disorder involving a deficiency of dopamine beta-hydroxylase which affects production of noradrenaline and adrenaline and results in symptoms such as low blood pressure on standing, droopy eyelids and stuffy nose.
  • Double Upper and Lower Lip - Hypertelorism - Ptosis - Blepharophimosis - clinodactyly: A very rare syndrome characterized y double lip involving the upper and lower lip, wide set eyes, droopy eyelids, blepharophimosis and abnormally curved fifth fingers.
  • Droopy eye-lid: Droopiness of the eyelids (ptosis)
  • Duane anomaly - mental retardation: A very rare syndrome characterized mainly by mental retardation and eye movement problems (Duane anomaly).
  • Dubowitz Syndrome: A rare genetic and developmental disorder characterized by infantile eczema, small stature, microcephaly and peculiar facial features.
  • Duck allergy: A duck allergy is an adverse reaction by the body's immune system to ducks. The allergy is usually associated with the skin, feathers or excrement from the duck. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary considerably amongst patients e.g. skin and respiratory symptoms.
  • Dup (1) (q32-qter) and del (3)(pter-p25): A very rare chromosomal disorder where a portion of the long arm (q32-qter) of chromosome one is duplicated and the short arm of chromosome 3 (pter-p25) is deleted.
  • Dup(1) (q25-q32): A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is duplicated. The type and severity of symptoms may vary.
  • Duplication 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
  • Duplication 18: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Duplication 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Duplication 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Duplication 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Duplication 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Duplication 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
  • Duplication 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Duplication 9p partial: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Dust mite allergies: Allergy to dust mites in household dust.
  • Dystonia 1, Torsion, Autosoma Dominant: A rare movement disorder where the patients suffers uncontrollable muscle contractions and distortion of body position. The limbs are usually involved first and then the condition spreads to other parts of the body.
  • Dystonia Musculorum Deformans 1: A rare movement disorder where the patients suffers uncontrollable muscle contractions and distortion of body position. The limbs are usually involved first and then the condition spreads to other parts of the body.
  • Dystonia musculorum deformans type 1: A rare movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. The trunk, neck and limbs are usually involved first.
  • Dystrophia myotonica 1: A rare genetic disorder characterized by myotonia, muscle atrophy, cataracts and hypogonadism.
  • Ectodermal dysplasia - arthrogryposis - diabetes mellitus: A rare syndrome characterized by diabetes, short stature and tooth, hair and nail abnormalities.
  • Ectodermal dysplasia - mental retardation - CNS malformation: A rare syndrome characterized mainly by mental retardation, central nervous system disorders and skin, hair and nail abnormalities.
  • Ectodermal dysplasia - mental retardation - central nervous system malformation: A rare syndrome characterized by severe mental retardation, hypothyroidism, abnormal brain development and hair, teeth and nail abnormalities.
  • Ectropion: Outward turning of the eyelid away from the eye.
  • Eczema: Skin rash usually from allergic causes.
  • Edward Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Elapid poisoning: Sea snakes, Kraits and cobras are from the Elapid group of snakes. The toxicity of the venom varies depending on the species. The venom is usually toxic to the nerves or heart. Early symptoms such as drowsiness can occur within 30 minutes with more severe symptoms developing over the next few hours. Severe envenomation can result in death within hours.
  • 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.
  • Emerinopathy: A rare, progressive muscle disease that starts during childhood and involves muscle weakness and wasting.
  • Engelhard-Yatziv syndrome: A rare syndrome characterized mainly by droopy eyelids, small head and finger and toe abnormalities.
  • Entropion: A condition in which the eyelids fold inward causing the eyelashes to rub against the eye.
  • Epidermolysa bullosa simplex and limb girdle muscular dystrophy: A rare syndrome involving fragile skin that blisters easily as well as muscle weakness and wasting in the head and limbs. The severity of the blistering and muscle weakness is variable with some sufferers dying during infancy.
  • Epiphyseal dysplasia - hearing loss - dysmorphism: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
  • Epiphyseal dysplasia dysmorphism camptodactyly: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
  • Erb-Goldflam: An inherited disorder characterized by a defect in the transmission of signals to the muscles which results in muscle weakness.
  • Eye blinking symptoms: Problems with the ability to blink or excessive blinking
  • Eye discharge: Discharge from one or both eyes.
  • Eye irritation: A sensation or feeling of discomfort to the eye
  • Eye spasm: A sudden involuntary contraction of the muscles of the eye.
  • Eye swelling: A swelling located at the eye
  • Eye symptoms: Symptoms affecting the eye
  • Eyebrow Duplication - Stretchable Skin - Syndactyly: A rare syndrome characterized by partially duplicated eyebrows, abnormally stretchy skin and webbed digits.
  • Eyebrows duplication of, with stretchable skin and syndactyly: A rare syndrome characterized mainly by duplication of some of the eyebrow, increased skin elasticity and webbed fingers and toes.
  • Eyebrows duplication syndactyly: A rare syndrome characterized mainly by duplication of some of the eyebrow, webbed fingers and toes and occasionally increased skin elasticity and other variable symptoms.
  • Eyelash symptoms: Symptoms affecting the eyelash
  • Eyelid Myokymia:
  • Eyelid blueness: A blue discolouration of the eyelid
  • Eyelid bruise: A haematoma that occurs on the eyelid
  • Eyelid burning sensation: A burning sensation on the eyelid
  • Eyelid coldness: Coldness that is located in the eyelid
  • Eyelid disorders: Any disorder that affects ones eyelid
  • Eyelid eczema: Eyelid eczema is a chronic skin condition affecting the eyelids. The skin of the eyelids becomes itchy, red and scaly. Often other parts of the body also have eczema.
  • Eyelid lump: A palpable lesion located anatomically on the eyelid
  • Eyelid numbness: A loss of sensation located on the eyelid
  • Eyelid pain: Sore eyelid or pain affecting the eyelid
  • Eyelid paralysis: A loss of the motor and or sensory function of the eyelid due to either a muscular or neural mechanism
  • Eyelid paresthesia/ tingling: A loss of sensation located on the eyelid
  • Eyelid rash: An eruption on the skin on the eyelid.
  • Eyelid spasm: A sudden involuntary contraction of the muscles of the eyelid.
  • Eyelid swelling: A swelling located on the eyelid
  • Eyelid tingling/paresthesias: A tingling and numbness that is located at the eyelid
  • Eyelid twitch: Involuntary twitching or blinking of the eyelids
  • Eyelid weakness: A weakness in the ability to move the eyelid
  • FACES syndrome: A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities.
  • Facial dysmorphism - shawl scrotum - joint laxity syndrome: A very rare syndrome characterized mainly by loose joints, facial anomalies and a shawl scrotum.
  • Facial myokymia: The involuntary movement of muscles of the face
  • Fanconi pancytopenia: A rare genetic disorder characterized by upper limb defects and kidney abnormalities.
  • Fazio-Londe syndrome: A rare inherited motor neuron disease characterized by progressive muscle weakness which ultimately leads to premature death.
  • 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 (FEOM): A group of rare congenital disorders of 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.
  • 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.
  • Fibrosis of extraocular muscles, congenital, 1: 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.
  • Fibrosis of extraocular muscles, congenital, 2: 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.
  • Fibrosis of extraocular muscles, congenital, 3: 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.
  • Fibrosis of extraocular muscles, congenital, 3A: A rare congenital disorder of 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). Type 3A has variable degrees of severity. Mild cases may have no evidence of eyelid drooping with an abnormal eye position and movement. The condition is not progressive.
  • Fibrosis of extraocular muscles, congenital, 3B: A rare congenital disorder of 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.
  • Fire-Bellied Toad poisoning: The Fire-Bellied toads are often kept as aquarium pets. These toads contain a poisonous chemical called bombesin and bominine which can various symptoms if accidentally ingested or comes into contact with the eyes, mouth or skin. Eye symptoms usually resolve within a day. The toads are native to Eastern Europe and Western Asia.
  • Fitzsimmons-McLachlan-Gilbert syndrome: A very rare syndrome characterized mainly by mental retardation paraplegia and thickened coarse skin on palms and soles.
  • Floating Harbor Syndrome: A rare genetic disorder characterized by growth deficiency, typical facial appearance and speech delay.
  • Food Additive Adverse reaction - MSG: An intolerance to MSG is an adverse reaction (not an immune response) by the body to a food additive called MSG which is used in a number of foods. The adverse reaction results from the body's inability to metabolize or deal with the food additive. The amount of the substance required to trigger the onset of symptoms and the nature and severity of symptoms may vary considerably between patients.
  • Food Additive Adverse reaction - amines: An intolerance to amines is an adverse reaction (not an immune response) by the body to amines which are found naturally in foods such as bananas, pineapples, vegetables, red wine, citrus fruit and many other foods. The adverse reaction results from the body's inability to metabolize or deal with the substance. The amount of the substance required to trigger the onset of symptoms and the nature and severity of symptoms may vary considerably between patients.
  • Food Additive Adverse reaction - food additives: An intolerance to food additives is an adverse reaction (not an immune response) by the body to food additives. The adverse reaction results from the body's inability to metabolize or deal with the food additive. The amount of the substance required to trigger the onset of symptoms and the nature and severity of symptoms may vary considerably between patients.
  • Food Additive Adverse reaction - salicylate: An intolerance to salicylates is an adverse reaction (not an immune response) by the body to salicylates which is an ingredient in aspirin but is also found naturally in various fruit, vegetables, herbs and spices. The adverse reaction results from the body's inability to metabolize or deal with the salicylate. The amount of the substance required to trigger the onset of symptoms and the nature and severity of symptoms may vary considerably between patients.
  • Food Additive Adverse reaction - sulfite: An intolerance to sulfites is an adverse reaction (not an immune response) by the body to sulfites which is often used as a preservative in a variety of foods and medications including meats, salads and dried fruits. The adverse reaction results from the body's inability to metabolize or deal with the sulfite. The amount of the substance required to trigger the onset of symptoms and the nature and severity of symptoms may vary considerably between patients.
  • Franceschetti-Klein syndrome: A rare genetic disorder characterized by malar hypoplasia, down-slanting eye slits, defect of lower eye lid and malformation of external ear.
  • Frias syndrome: A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies.
  • Froster-Iskenius-Waterson syndrome: A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles.
  • Fryns-Aftimos syndrome: A rare syndrome characterized mainly by abnormal brain development, epilepsy, mental retardation and unusual facial appearance.
  • Furlong-Kurczynski-Hennessy syndrome: A very rare syndrome characterized by the association of premature fusion of skull bones with Marfanoid features. The disorder arises from abnormal connective tissue.
  • Generalized Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease resulting from autoimmune dysfunction. In generalized myasthenia gravis weakness develops mainly in the limbs and trunk. The severity of symptoms may vary amongst patients. Most patients suffer increased severity of symptoms during the day with improvement after sleeping.
  • Generalized Myokymia: Spontaneous tetanic contractions of the muscles all over the body
  • German syndrome: A rare disorder caused by fetal exposure to trimethadione (anticonvulsant drug) and resulting in various physical and developemental abnormalities.
  • Gillum-Anderson syndrome: A rare genetic condition characterized by dislocation of eye lens, nearsightedness and drooping upper eyelid.
  • Glaucoma: A condition which affects the eye and characterized by an increase in the intraocular pressure
  • Glaucoma, congenital: Glaucoma that is present at birth. Glaucoma is an eye condition where the pressure inside the eyeball is increased which can cause progressive vision problems. It may be a result of drainage structure abnormalities within the eye or may occur as a result of other conditions
  • Glomerulonephritis: A condition which affects the kidneys and is characterized by inflammatory changes that occur in the glomeruli
  • Goldberg-Shprintzen megacolon syndrome: A rare malformations syndrome characterized by abnormalities such as small head, eye problems, poor muscle tone, hearing problems and Hirschsprung megacolon where defective intestinal muscles are unable to move stool efficiently through the intestines.
  • Goldstein-Hutt syndrome: A rare syndrome characterized mainly by cataracts, excessive eyelash growth and and a blood abnormality (the red blood cells are spherical instead of doughnut shaped which makes them fragile).
  • Gollop syndrome: A rare syndrome characterized mainly by eye, ear, facial and nasal abnormalities.
  • Gonococcal conjunctivitis: An eye disease that is sexually transmitted. It is caused by a bacterium called Neisseria gonorrhoeae.
  • Goose allergy: A goose allergy is an adverse reaction by the body's immune system to geese. The allergy is usually associated with the skin, feathers or excrement of the goose. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary considerably amongst patients e.g. skin and respiratory symptoms.
  • Granulomatous hypophysitis: A rare disorder caused by the inflammation of the pituitary gland. It can occur as a result of other infections such as tuberculosis and sarcoidosis.
  • Graves disease: A condition which is an autoimmune disease that affects the thyroid resulting hyperthyroidism
  • Greenhead ant sting: The Greenhead ant is found in parts of Australia and can cause allergic reactions in susceptible people. Some people have a relatively minor allergic response whereas other develop anaphylaxis which is a life-threatening allergic response which requires urgent medical attention. The ants have a venom gland attached to a stinger located in their tail region. Ants can sting more than once.
  • Grix-Blankenship-Peterson syndrome: A very rare syndrome characterized mainly by mental retardation, bone defects and head and face abnormalities.
  • Growth deficiency brachydactyly unusual facies: A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies.
  • Hay fever: A seasonal condition which is a form of allergic rhinitis
  • Hemifacial spasm: Repeated spasms of the face muscles.
  • Herbal Agent adverse reaction - Licorice: Licorice can be used as a herbal agent in cough medications and as a food additive in chewing gum and chewing tobacco. The herbal agent contains a chemical called glycyrrhizic acid which can cause an adverse reaction in some people.
  • Herbal Agent overdose - Cleistanthus Collinus: Cleistanthus collinus can be used as a herbal agent which is very toxic and has been used to commit suicide or murder. The herbal agent contains toxic chemicals such as dyphyllin, collinusin and glycosides.
  • Hereditary Congenital Facial Paresis: Hereditary Congenital Facial Paresis is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis. There are two subtypes which differ in the origin of the genetic defect: type I is caused by a defect on chromosome 3q and type II is linked to a genetic defect on chromosome 10q. The facial paralysis may affect one or both sides of the face.
  • Hereditary Congenital Facial Paresis 2: Hereditary Congenital Facial Paresis II is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis. It is linked to a genetic defect on chromosome 10q. The facial paralysis may affect one or both sides of the face.
  • Hereditary Congenital Facial Paresis I: Hereditary Congenital Facial Paresis I is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis. It is linked to a genetic defect on chromosome 3q. The facial paralysis may affect one or both sides of the face.
  • Hereditary angioedema: An inherited disorder where a blockage in a lymphatic vessel or blood vein causes temporary swelling of affected parts of the body which sometimes includes organs.
  • Hereditary angioedema, type 1: A rare disorder characterized by recurring episodes of swelling of parts of the skin or mucous membranes. Sometimes internal organs may be involved. Symptoms can last for up to five days with usually weeks between episodes. Type I is the most common type and is due to the reduced production of C1 inhibitor proteins. Episodes can be triggered by emotional or physical stress but can occur spontaneously.
  • Hereditary angioedema, type 2: A rare disorder characterized by recurring episodes of swelling of parts of the skin or mucous membranes. Sometimes internal organs may be involved. Symptoms can last for up to five days with usually weeks between episodes. Type 2 is due to defective C1 inhibitor proteins which are present at normal levels.
  • Hereditary angioedema, type III: A rare disorder characterized by recurring episodes of swelling of parts of the skin or mucous membranes. Sometimes internal organs may be involved. Symptoms can last for up to five days with usually weeks between episodes. Type 3 is due to a defect in Coagulation factor XII rather than a deficient or dysfunctional C1 (complex blood protein) as in types 1 and 2. This type is exacerbated by increased estrogen levels which can be caused by pregnancy or oral contraception. The severity of the disorder is variable with some patients only suffering episodes during pregnancy or after starting oral contraception. In other cases, adolescence triggered episodes
  • Holoprosencephaly - ectrodactyly - cleft lip/palate: A very rare syndrome characterized mainly by a cleft hand, lip and/or palate and the failure of the brain to separate into two lobes.
  • Horner's syndrome: Horner's syndrome is characterised by ptosis, meiosis, anhidrosis and loss of ciliospinal reflex.
  • Hornova-Dlurosova syndrome: A rare disorder characterized by mental retardation and amyloid (abnormal protein) deposits in the eyelids and gums.
  • Houlston-Ironton-Temple syndrome: A very rare syndrome characterized mainly by
  • Hunter-Fraser syndrome: A rare inherited syndrome characterized mainly by mental retardation and facial and skeletal abnormalities.
  • Hunter-MacDonald syndrome: A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas.
  • Hunter-McAlpine syndrome: A very rare dominantly inherited syndrome characterized mainly by premature fusion of skull bones, mental retardation, small mouth, short stature and finger and toe anomalies.
  • Hunter-Mcdonald syndrome: A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors.
  • Hypopigmented lesions in children:
  • Hypothyroidism due to iodide transport defect: Low thyroid hormone levels in infants due to abnormal iodide transport in the body caused by a genetic defect. The severity of the condition varies depending on the extent of the defect and the length of time taken to diagnose the condition. Symptoms tend to become worse, the longer the condition is undiagnosed.
  • Hypotonia-cystinuria syndrome: A genetic disorder characterized by reduced muscle tone, growth hormone deficiency and unusual facial appearance. Failure to thrive occurs during the first years of life but is replaced by rapid weight gain in later childhood. This syndrome is a milder form of the 2p21 deletion syndrome.
  • I cell disease: A rare inherited biochemical disorder characterized by the harmful accumulation of chemicals (glycoproteins and glycoplipids) due to the deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase).
  • Ichthyosiform erythroderma, nonbullous congenital: A rare inherited skin disorder characterized by redness, scaling and ultimately thickening of the skin that occurs from birth. The severity of the condition is variable.
  • Ichthyosis, Keratosis Follicularis Spinulosa Decalvans: A rare inherited skin disorder where the skin around hair follicles becomes stiffened and the resulting scarring causes hair loss.
  • Idiopathic Parkinson's disease: Idiopathic Parkinson's disease is Parkinson's disease for which no particular cause can be determined - it is the most prevalent form of the condition. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Idiopathic dystonia DYT1: A rare movement disorder where the patients suffers uncontrollable muscle contractions and distortion of body position. The limbs are usually involved first and then the condition spreads to other parts of the body.
  • Idiopathic minimal change nephrotic syndrome: A rare kidney disorder which has no apparent cause. The filtering structures of the kidneys are only slightly damaged and appear to be almost normal. Progression to kidney failure is very rare.
  • IgE mediated gastrointestinal food allergy: An adverse reaction by the body's immune system to food that is driven by IgE. IgE antibodies specific to food molecules bind with the circulating food allergen and cause the release of immune response molecules such as cytokines. Symptoms usually occur soon after exposure to the allergen and usually cause skin symptoms. Severe cases may result in anaphylaxis. It is associated with allergic conditions such as pollen-food allergy and other oral allergies and immediate gastrointestinal hypersensitivity.
  • Inch ant sting: The Inch ant is found in parts of Australia and can cause allergic reactions in susceptible people. Some people have a relatively minor allergic response whereas other develop anaphylaxis which is a life-threatening allergic response which requires urgent medical attention. The ants have a venom gland attached to a stinger located in their tail region. Ants can sting more than once.
  • Inclusion conjunctivitis: Inflammation of the conjunctiva of the eye by the bacterium Chlamydia trachomatis which is a sexually transmitted pathogen. The infection can occur in newborns while passing through an infected birth canal. Adult infections tend to be transmitted to the eye from the infected genitals via the hands. Infected swimming ppols or hot tubs may also be a source of infection.
  • Infantile sialic acid storage disorder: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy.
  • Insect bite allergy: An insect bite allergy is an adverse reaction by the body's immune system to a bite by an insect such as an ant. Multiple bites increase the risk of a severe reaction or death. The specific symptoms that can result can vary amongst patients.
  • Insect sting allergy: An insect sting allergy is an adverse reaction by the body's immune system to a sting by an insect such as an ant. Multiple stings increase the risk of a severe reaction or death. The specific symptoms that can result can vary amongst patients.
  • Intellectual deficit - multiple anomalies: A very rare syndrome characterized mainly by mental retardation and multiple birth abnormalities such as heart defects, undescended testes, curved spine and distinctive facial appearance.
  • Itchy eyelid: Itching of the eyelid
  • Jack jumper ant sting: The jack jumper ant is commonly found in many parts of Australia and can cause allergic reactions in susceptible people. Some people have a relatively minor allergic response whereas other develop anaphylaxis which is a life-threatening allergic response which requires urgent medical attention. Jack jumpers deliver their venom by grabbing skin in its jaws and then using a stinger located in their tail region to inject the venom.
  • Jones-Hersh-Yusk syndrome: A rare congenital disorder characterized by missing toes, cleft palate, blistered skin and absent patches of skin at birth.
  • Jorgenson-Lenz syndrome: A very rare syndrome characterized mainly by
  • Juvenile Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease which results from autoimmune dysfunction. Juvenile myasthenia gravis also has autoimmune origins and tends to develop during childhood. Symptoms tend to become worse during the day with activity and improve after rest or after sleeping. The severity of symptoms may vary.
  • Kabuki syndrome: A rare genetic disorder characterized by distinctive facial features.
  • Kaplan-Plauchu-Fitch syndrome: A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.
  • Katsantoni-Papadakou-Lagoyanni syndrome: A very rare syndrome characterized mainly by mental retardation and hair abnormalities.
  • Kaufman oculocerebrofacial syndrome: A rare syndrome characterized by a small head, narrow face, eye anomalies, severe mental retardation and long thin hands and feet. The disorder is recessively inherited.
  • Kidney symptoms: Symptoms affecting one or both kidneys.
  • King Cobra poisoning: The King Cobra is a large venomous snake usually found in southeast Asia and India. Most bites from this snake results in envenomation due to the ferocity of their bite. The poison primarily affects the neuromuscular system but can also affect blood clotting.
  • King-Denborough syndrome: A rare birth disorder characterized by musculoskeletal abnormalities and nerve muscle problems.
  • Kozlowski-Brown-Hardwick syndrome: A very rare syndrome characterized mainly by various skeletal anomalies, unusual facial appearance, eye abnormalities and communicating hydrocephaly.
  • Lambert-Eaton Myasthenic Syndrome: A condition where a patient with a carcinoma suffers from progressive muscular weakness.
  • Landouzy-Dejerine muscular dystrophy: A rare inherited neuromuscular disorder characterized mainly by progressive weakness and wasting of facial and shoulder and upper arm muscles. A rare form of the condition is noticeable at infancy and progresses rapidly.
  • Lassa fever: Infectious rat-borne West African disease.
  • Lateral meningocele syndrome: A rare syndrome characterized mainly by lateral meningoceles (openings in the spinal cord on the inside of the spine) as well as craniofacial anomalies. The syndrome is believed to involve the abnormal development of the spinal cord, cerebellum and cerebral cortex.
  • Latex allergies: When a person has an allergic reaction to latex
  • Lens disorders: Any disorder that affects the lens of ones eye
  • Lenz Microphthalmia Syndrome: A condition which is characterized by an abnormally small eye
  • Lepidopterism: A systemic illness caused by contact with certain poisonous caterpillar spines or urticating hairs.
  • Levic-Stefanovic-Nikolic syndrome: A very rare inherited syndrome characterized mainly by mental retardation, ophthalmoplegia and a fissured tongue.
  • Lindstrom syndrome: A rare disorder characterized by mental retardation, facial anomalies, short stature and seizures.
  • Lipidosis with triglyceride storage disease: A very disorder involving abnormal storage of fat (triglycerides in parts of the body). The condition causes blood abnormalities as well as skin, eye and hearing problems.
  • Loss of eyelashes: The loss of a persons eyelashes
  • Lupus: Autoimmune disease with numerous effects on various organs and linings.
  • Lymphedema - ptosis: A very rare syndrome characterized mainly by lymphedema (lymphatic obstruction) in the legs and droopy eyelids.
  • Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations: A very rare syndrome characterized mainly by a large head, short stature and central nervous system problems.
  • Macrostomia - preauricular tags - external ophthalmoplegia: A rare syndrome characterized mainly by a large mouth, skin tags in front of the ears and weak external eye muscles.
  • 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.
  • Malouf syndrome: A very rare syndrome characterized mainly by heart disease as well as abnormal ovaries.
  • Marcus-Gunn phenomenon: A congenital condition where the eyelids droop but rise up when the mouth is opened.
  • McDonough syndrome: A very rare syndrome characterized mainly by mental retardation and multiple birth abnormalities such as heart defects, undescended testes, curved spine and distinctive facial appearance.
  • McPherson-Robertson-Cammarano syndrome: A very rare inherited disorder characterized by droopy eyelids, strabismus and ectopic pupils.
  • Megarbane syndrome: A very rare disorder characterized by short stature, loose joints, hernias, facial abnormalities and severe psychomotor retardation.
  • Mehes syndrome: A very rare syndrome characterized mainly by delayed speech, an asymmetrical face, crossed eyes and ear lobe creases.
  • Mende syndrome: A rare condition characterized by congenital deafness, mutism, partial albinism and a mongoloid face as well as other anomalies.
  • Mental retardation - arachnodactyly - hypotonia - telangiectasia: A very rare syndrome characterized mainly by mental retardation, short fingers, reduced muscle tone and spider veins (telangiectasia).
  • Mental retardation - myopathy - short stature - endocrine defect: A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects.
  • Mental retardation - short stature - deafness - genital: A very rare syndrome characterized mainly by mental retardation, short stature, deafness and genital abnormalities.
  • Mental retardation - short stature - microcephaly - eye anomalies: A very rare syndrome characterized mainly by mental retardation, short stature, small head and eye abnormalities. It has only been reported in one family.
  • Mental retardation unusual facies ampola type: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Mental retardation, Mietens-Weber type: A very rare genetic condition characterized by mental retardation, corneal opacity, nystagmus, elbow contractures and dwarfism.
  • Mental retardation, Smith-Fineman-Myers type: A rare inherited disorder characterized mainly by mental retardation and low facial muscle tone.
  • Mental retardation, Wolff type: A very rare syndrome characterized mainly by severe mental retardation and facial anomalies. The parents came from the same bloodline.
  • Mental retardation, X-linked, syndromic 11: A rare form of mental retardation inherited in a X-linked manner. It is also associated with an unusual facial appearance and results from a defect on chromosome Xq26-q27. Female carriers tended to have some degree of facial dysmorphism but no mental retardation.
  • Mental retardation, X-linked, syndromic type 11: A rare form of mental retardation inherited in a X-linked manner. It is also associated with an unusual facial appearance and results from a defect on chromosome Xq26-q27. Female carriers tended to have some degree of facial dysmorphism but no mental retardation.
  • Mesomelic dysplasia, Camera type: A rare inherited skeletal disorder characterized mainly by short forearm bones and a hip defect as well as some facial feature anomalies.
  • Metaphyseal undermodeling, spondylar dysplasia, and overgrowth: A rare condition characterized by the association of skeletal anomalies and overgrowth. One of the three children observed with the condition died during adolescence.
  • Microbrachycephaly - ptosis - cleft lip: A very rare syndrome characterized mainly by a small, short head, droopy eyelids and a cleft lip.
  • Microcephaly - cervical spine fusion anomalies: A very rare syndrome characterized mainly by a small head and fused neck vertebrae.
  • Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
  • Microlissencephaly - micromelia: A rare syndrome characterized mainly by short arms, a brain defect called microlissencephaly, small head and early death.
  • Microphthalmia, Lentz type: A condition which is characterized by an abnormally small eye as well as other variable symptoms.
  • Microphthalmia, syndromic 1: A condition which is characterized by an abnormally small eye as well as other variable symptoms.
  • Minicore disease: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The rate of progression and severity of symptoms is variable.
  • Minicore myopathy with external ophthalmoplegia: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The ophthalmoplegic form is distinguished by the presence of eye muscle weakness. The severity of symptoms is variable.
  • Mitochondrial Parkinson's disease: A form of Parkinson's disease that seems to be linked to mitochondrial defects - mitochondria are the energy-producing components of body cells. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Mitochondrial diseases: Any of a group of mitochondrial disorders affecting cell metabolism and especially muscles.
  • Mitochondrial encephalomyopathy - aminoacidopathy: A very rare syndrome characterized mainly by muscle and brain disease and an amino acid disorder.
  • Mitochondrial neurogastrointestinal encephalopathy syndrome: A rare genetic disorder which affects a number of body systems and manifests results in symptoms such as droopy eyelids, progressive eye muscle weakness, gastrointestinal dysmotility, brain disease, thin body, peripheral neuropathy and muscle disease.
  • Moebius Syndrome: Moebius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis.
  • Mohave Rattle snake poisoning: The Mohave rattle snake is a poisonous snake found mainly in Mexico and south-western areas of the US. The type of venom in Mohave snakes varies amongst species. Those with Type A venom tend to affect the nervous system whereas those with Type B venom primarily affect the blood and tissues. Type A tends to be more toxic than type B. Children tend to suffer more severe symptoms due to their smaller body size.
  • Mold allergies: Allergies to airborne or household molds.
  • Mold allergy: A mold allergy is an adverse reaction by the body's immune system to spores produced by a mold. Symptoms tend to occur in a seasonal pattern as spore production by molds tends to increase and decrease with changes in seasons. The specific symptoms that can result can vary amongst patients.
  • Mononucleosis: Common infectious virus.
  • Montefiore syndrome: A very rare syndrome characterized mainly by skull, facial, heart and digital abnormalities.
  • Mowat-Wilson syndrome: A very rare syndrome characterized mainly by mental retardation, a small head, characteristic facial appearance and various other abnormalities.
  • 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.
  • Multiminicore disease (MmD): A rare congenital muscle disorder involving weakness and wasting of skeletal muscles. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The rate of progression and severity of symptoms is variable.
  • Multiple pterygium syndrome: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
  • Multiple pterygium syndrome, autosomal recessive: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
  • Mungan syndrome: A recessively inherited disorder characterized by heart abnormalities and gastrointestinal abnormalities. Death has occurred in some cases during the late teenage years.
  • Munk disease: A type of kidney disease that is more prevalent in children. It involves the build up of fats in the cells of the kidney tubules. The symptoms experienced may vary with the severity of the condition.
  • Muscular dystrophy - congenital infantile cataract - hypogonadism: A very rare syndrome characterized mainly by muscle wasting, infantile cataracts and hypogonadism.
  • Muscular dystrophy, congenital, infantile with cataract - hypogonadism: A very rare syndrome characterized mainly by muscle wasting, infantile cataracts and hypogonadism.
  • Myasthenia Gravis: An autoimmune disorder which interferes with nerve impulses to muscles and hence results in weak, easily fatigued muscles.
  • Myasthenia Gravis with Thymus Hyperplasia: Myasthenia gravis is an autoimmune neuromuscular disease which is often associated with an abnormal thymus. The relationship between the thymus and myasthenia is not fully understood but as the thymus is involved in the body's immune system, it may trigger the immune system abnormality underlying some cases of myasthenia gravis.
  • Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors: A neuromuscular disease that is present from birth and is characterized by the inability to manage the condition by administering acetylcholinesterase inhibitors which is used to treat other myasthenias. This form of myasthenia results from a genetic defect whereas other forms of myasthenia generally result from an autoimmune process.
  • Myasthenia, Familial Infantile, 1: Illness, stress or fatigue may result in sudden severe episodes of apnea which can be fatal.
  • Myasthenia, familial: A familial form of myasthenia which is a muscle disease characterized by muscle weakness. The weakness is exacerbated by physical activity and improved by resting.
  • Myasthenia, familial limb-girdle: A rare genetic condition characterized by weakness of the chest and pelvic girdle muscles.
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency: A genetic, nonprogressive neuromuscular disorder causing muscle weakness. The severity of symptoms is variable and stress and illness can exacerbate symptoms.
  • Myasthenic syndrome, congenital, slow-channel: A rare disorder involving progressive muscle wasting and weakness of variable severity depending on the exact origin of the genetic defect. The problem arises from defective processes at the junction of nerve and muscle cells.
  • Myokymia: A form of involuntary muscle movement that is best seen by rippling of the skin.
  • Myopathy, early-onset with fatal cardiomyopathy: A rare disorder involving muscle disease and early onset heart disease which leads to death.
  • Möbius syndrome: Möbius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis.
  • NADH CoQ reductase, deficiency of: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders neurodegenerative disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.
  • Naguib syndrome: A rare syndrome characterized mainly by wide-set eyes, hypospadias and extra fingers.
  • Nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia and severe mental retardation: A rare syndrome characterized sparse hair, underdeveloped nose and genitals, severe mental retardation and truncal obesity.
  • Native American myopathy: A rare genetic disorder characterized by muscle disease from birth, cleft palate and malignant hyperthermia.
  • 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.
  • Nephrosis, idiopathic form, familial: A rare, inherited, severe kidney disorder which usually results in end-stage kidney failure. Steroids and immunosuppressive therapies are of no effect on the disease and only a kidney transplant can resolve the condition.
  • Nephrosis, idiopathic, sporadic form: A rare kidney disorder which usually results in end-stage kidney failure. Steroids and immunosuppressive therapies usually have no effect on the disease and only a kidney transplant can resolve the condition. The condition can reoccur even after a kidney transplant.
  • Nephrotic syndrome: A condition involving excess loss of protein in the urine, reduced albumin levels in the blood and swelling.
  • Nephrotic syndrome type 2: A rare, severe kidney disorder which usually results in end-stage kidney failure. The condition is inherited in an autosomal recessive manner. Steroids and immunosuppressive therapies are of no effect on the disease and only a kidney transplant can resolve the condition.
  • Nephrotic syndrome, early onset, type 3: A rare, early onset kidney disorder which usually results in end-stage kidney failure. Steroids and immunosuppressive therapies usually have no effect on the disease and only a kidney transplant can resolve the condition.
  • Nephrotic syndrome, idiopathic, steroid-resistant, autosomal recessive: A rare, severe kidney disorder which usually results in end-stage kidney failure. The condition is inherited in an autosomal recessive manner. Steroids and immunosuppressive therapies are of no effect on the disease and only a kidney transplant can resolve the condition.
  • Nephrotic syndrome, idiopathic, steroid-resistant, familial: A rare, inherited, severe kidney disorder which usually results in end-stage kidney failure. Steroids and immunosuppressive therapies are of no effect on the disease and only a kidney transplant can resolve the condition.
  • Nephrotic syndrome, steroid-resistant, sporadic idiopathic: A rare kidney disorder which usually results in end-stage kidney failure. Steroids and immunosuppressive therapies usually have no effect on the disease and only a kidney transplant can resolve the condition. The condition can reoccur even after a kidney transplant.
  • Nephrotic syndrome, steroid-sensitive: A kidney disease which can lead to end-stage kidney failure but tends to respond well to steroids and immunosuppressive therapies.
  • Neurofaciodigitorenal syndrome: A very rare syndrome characterized mainly by
  • Neurofibromatosis-Noonan syndrome: A rare disorder where the patients has symptoms of neurofibromatosis (nerve tumors) and Noonan syndrome (short stature, bleeding problems, heart defect, unusual facial features, skeletal anomalies, webbed neck).
  • Night blindness - skeletal anomalies - unusual facies: A very rare syndrome characterized mainly by night blindness, a distinctive face and skeletal abnormalities.
  • Non-Food Allergy - Africanized honeybee: An Africanized honeybee allergy is an adverse reaction by the body's immune system to an Africanized honeybee sting. Multiple stings increase the risk of a severe reaction or death. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - Ant: An ant bite allergy is an adverse reaction by the body's immune system to an ant bite. Multiple bites increase the risk of a severe reaction or death. Certain ants pose more of an allergy risk than others e.g. red fire ant. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - Black fire ant: A black fire ant bite allergy is an adverse reaction by the body's immune system to a black fire ant bite. Multiple bites increase the risk of a severe reaction or death. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - Bumblebee: A Bumblebee allergy is an adverse reaction by the body's immune system to a Bumblebee sting. Multiple stings increase the risk of a severe reaction or death. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - Cockroach: A cockroach allergy is an adverse reaction by the body's immune system to cockroaches, in particular their saliva, outer shell, eggs and feces. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - Hornet: A hornet allergy is an adverse reaction by the body's immune system to a hornet sting. Multiple stings increase the risk of a severe reaction or death. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - Red fire ant: A red fire ant bite allergy is an adverse reaction by the body's immune system to a red fire ant bite. Multiple bites increase the risk of a severe reaction or death. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - Tropical fire ant: A tropical fire ant bite allergy is an adverse reaction by the body's immune system to a tropical fire ant bite. Multiple bites increase the risk of a severe reaction or death. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - Yellow jacket Wasp: A yellow jacket allergy is an adverse reaction by the body's immune system to a yellow jacket wasp sting. Multiple stings increase the risk of a severe reaction or death. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - fungus, Alternaria: An Alternaria fungus allergy is an adverse reaction by the body's immune system to spores produced by a fungus called Alternaria. Alternaria is a common outdoor mold and can cause severe asthmatic symptoms as well as other allergy symptoms. Symptoms tend to occur in a seasonal pattern as spore production by molds tends to increase and decrease with changes in seasons. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - fungus, Aspergillus spp: An Aspergillus spp fungus allergy is an adverse reaction by the body's immune system to spores produced by a fungus called Aspergillus spp. Aspergillus is a common indoor and outdoor mold. Symptoms tend to occur in a seasonal pattern as spore production by molds tends to increase and decrease with changes in seasons. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - fungus, Aureobasidium (Pullularia): A Aureobasidium fungus allergy is an adverse reaction by the body's immune system to spores produced by a fungus called Aureobasidium. Aureobasidium is a common outdoor mold often found on paper, lumber and painted objects. Symptoms tend to occur in a seasonal pattern as spore production by molds tends to increase and decrease with changes in seasons. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - fungus, Candida albicans: A Candida albicans fungus allergy is an adverse reaction by the body's immune system to spores produced by a fungus called Candida albicans. Symptoms tend to occur in a seasonal pattern as spore production by molds tends to increase and decrease with changes in seasons. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - fungus, Cladosporium: A Cladosporium fungus allergy is an adverse reaction by the body's immune system to spores produced by a fungus called Cladosporium. Cladosporium is one of the most common outdoor airborne molds. Symptoms tend to occur in a seasonal pattern as spore production by molds tends to increase and decrease with changes in seasons. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - fungus, Epicoccum: An Epicoccum fungus allergy is an adverse reaction by the body's immune system to spores produced by a fungus called Epicoccum. Epicoccum tends to be found in grassland and agricultural areas. Symptoms tend to occur in a seasonal pattern as spore production by molds tends to increase and decrease with changes in seasons. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - fungus, Fusarium: A Fusarium fungus allergy is an adverse reaction by the body's immune system to spores produced by a fungus called Fusarium. Fusarium is often found on rotting plants. Symptoms tend to occur in a seasonal pattern as spore production by molds tends to increase and decrease with changes in seasons. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - fungus, Helminthosporium: A Helminthosporium fungus allergy is an adverse reaction by the body's immune system to spores produced by a fungus called Helminthosporium. Helminthosporium is a fungus found more often in warmer climates. Symptoms tend to occur in a seasonal pattern as spore production by molds tends to increase and decrease with changes in seasons. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - fungus, Mucor: A Mucor fungus allergy is an adverse reaction by the body's immune system to spores produced by a fungus called Mucor. Mucor is a relatively uncommon fungus but can be found on decaying vegetation and damp indoor areas. Symptoms tend to occur in a seasonal pattern as spore production by molds tends to increase and decrease with changes in seasons. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - fungus, Penicillium: A Penicillium fungus allergy is an adverse reaction by the body's immune system to spores produced by a fungus called Penicillium. Penicillium is a common indoor mold and allergy to this fungus is unrelated to a penicillin allergy. Symptoms tend to occur in a seasonal pattern as spore production by molds tends to increase and decrease with changes in seasons. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - fungus, Phoma: A Phoma fungus allergy is an adverse reaction by the body's immune system to spores produced by a fungus called Phoma. Phoma is an outdoor mold which is predominant during wet periods. Symptoms tend to occur in a seasonal pattern as spore production by molds tends to increase and decrease with changes in seasons. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - fungus, Rhizopus: A Rhizopus fungus allergy is an adverse reaction by the body's immune system to spores produced by a fungus called Rhizopus. Rhizopus is relatively uncommon but can be found on decaying vegetation and damp indoor areas. Symptoms tend to occur in a seasonal pattern as spore production by molds tends to increase and decrease with changes in seasons. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - fungus, smut: A smut allergy is an adverse reaction by the body's immune system to spores produced by a fungus called smut. Smut is common in agricultural areas. Symptoms tend to occur in a seasonal pattern as spore production by molds tends to increase and decrease with changes in seasons. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - honey bee: A honey bee allergy is an adverse reaction by the body's immune system to a honey bee sting. Multiple stings increase the risk of a severe reaction or death. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - scorpion: A scorpion allergy is an adverse reaction by the body's immune system to a scorpion sting. Multiple stings increase the risk of a severe reaction or death. The specific symptoms that can result can vary amongst patients.
  • Non-Food Allergy - wasp: A wasp allergy is an adverse reaction by the body's immune system to a wasp sting. Multiple stings increase the risk of a severe reaction or death. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary amongst patients.
  • Noonan Syndrome: A rare genetic disorder characterized by a webbed neck, chest deformity, undescended testes and pulmonic stenosis.
  • Noonan syndrome 3: A genetic condition characterized by short stature, distinctive facial characteristics, learning difficulties, congenital heart conditions and various other anomalies.
  • OFD syndrome type 8: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
  • Ocular Herpes: Viral infection of the eye from herpes virus.
  • Ocular Muscular Dystrophy: A slow progressing paralysis of the muscles surrounding the eyes. Eventually the eyes are unable to move.
  • Ocular Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease resulting from autoimmune dysfunction. In ocular myasthenia gravis, only the eye muscles are affected. A significant number of patients with ocular myasthenia gravis go on to develop symptoms in other muscles.
  • Ocular vaccinia: Ocular vaccinia is a smallpox infection of the eye. The infection usually occurs through eye contact with a hand contaminated with the virus.
  • Oculopalatoskeletal syndrome: A very rare syndrome characterized mainly by eye, mouth palate and skeletal abnormalities.
  • Oculopharyngeal Muscular Dystrophy: A group of genetic muscle-wasting diseases which affects mainly the eyes and throat. Weakness in limb and facial muscles can occur in later stages.
  • Okamuto Satomura syndrome: A very rare syndrome characterized mainly by kidney, heart and facial abnormalities as well as reduced muscle tone and mental retardation.
  • Ophtalmoplegia myalgia tubular aggregates: A very rare muscle disorder where accumulation of tubular bodies in muscle tissue causes progressive eye muscle weakness and muscle pain triggered by exercise.
  • Ophthalmitis: Eye inflammation.
  • Ophthalmoplegic Muscular dystrophy: A rare disorder characterized by progressive weakness and wasting of the muscles around the eyes. Swallowing muscles may eventually become involved as well.
  • Opitz-Reynolds-Fitzgerald syndrome: A very rare syndrome characterized mainly by extra little fingers, deafness and bone abnormalities of the face.
  • Opthalmoplegia - mental retardation - lingua scrotalis: A very rare syndrome characterized mainly by weak or paralyzed eye muscles, mental retardation and a fissured tongue.
  • Optic atrophy - ophthalmoplegia - ptosis - deafness - myopathy: A rare syndrome characterized by a variety of eye problems, deafness and muscle disease.
  • Optic atrophy opthalmoplegia ptosis deafness myopia: A rare syndrome characterized by the association of optic atrophy, ophthalmoplegia, droopy eyelids, deafness and myopia.
  • Orbital lymphangioma: A tumor that develops from lymph vessels around the eye.
  • Orbital lymphoma: A tumor that develops in the soft tissue of the eye socket and can push against the eye causing problems with vision and eye movement.
  • Pachydermoperiostosis: A rare genetic ectodermal disorder characterized by thick coarse skin and limb clubbing.
  • 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.
  • Papilloedema: is the optic disc swelling due to raised intracranial pressure
  • Parakeet allergy: A parakeet allergy is an adverse reaction by the body's immune system to parakeets. The allergy is usually associated with the skin, feathers or excrement of the parakeet. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary considerably amongst patients e.g. skin and respiratory symptoms.
  • Paranasal sinus cancer, adult: Cancer that develops in the paranasal sinus which are spaces behind the cheeks and nose.
  • Parkinson disease 10 (PARK10): Type 10 Parkinson disease is linked to a genetic mutation on chromosome 1p32. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 11 (PARK11): Type 11 Parkinson disease is linked to a genetic mutation on chromosome 2q21.2. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 12 (PARK12): Type 12 Parkinson disease is linked to a genetic mutation on chromosome Xq21-q25. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 13 (PARK13): Type 13 Parkinson disease is linked to a genetic mutation on chromosome 2p12. This form of the condition tends to progress slowly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 2, autosomal recessive juvenile (PARK2): Type 2 Parkinson disease is juvenile form of the condition and is linked to a genetic mutation on chromosome 6q25.2-q27. The condition may be inherited in a recessive manner and symptoms tend to be milder following sleep. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 3, autosomal dominant Lewy body (PARK3): Type 3 Parkinson disease is linked to a genetic mutation on chromosome 2p13. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 4, autosomal dominant Lewy body (PARK4): Type 4 Parkinson disease is linked to a genetic mutation on chromosome 4q21. This form of the condition tends to start around the age of 45 years and progresses rapidly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 5 (PARK5): Type 5 Parkinson disease is linked to a genetic mutation on chromosome 4p14. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 6, autosomal recessive early-onset (PARK6): Type 6 Parkinson disease is an early-onset form of the condition and is linked to a genetic mutation on the PINK1 gene on chromosome 1p36. The condition may be inherited in a recessive manner and symptoms tend to fluctuate during the day. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 7, autosomal recessive early-onset (PARK7): Type 7 Parkinson disease is linked to a genetic mutation in the DJ1 gene on chromosome 1p36. This form of the condition tends to start before the age of 40 years and progresses slowly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 8 (PARK8): Type 8 Parkinson disease is linked to a genetic mutation on chromosome 1p32. This form of the condition tends to progress slowly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease 9 (PARK9): Type 9 Parkinson disease is linked to a mutation in the ATP13A2 gene on chromosome 1p36. This condition progresses rapidly and usually starts during the second decade of life. Dementia, eye movement problems and wasting of the brain tissue occur in addition to the typical symptoms of Parkinson's disease. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson disease, familial, type 1 (PARK1): Type 1 familial Parkinson disease is linked to a genetic mutation on chromosome 4q21. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Parkinson's Disease: Degenerative brain condition characterised by tremor.
  • Parrot allergy: A parrot allergy is an adverse reaction by the body's immune system to parrots. The allergy is usually associated with the skin, feathers or excrement of the parrot. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary considerably amongst patients e.g. skin and respiratory symptoms.
  • 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.
  • Partial Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of only part of chromosome 18 in the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of the whole of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved and how much of the chromosome is involved.
  • Periorbital oedema: Swelling in the tissues around the eye.
  • Pet allergy: A pet allergy is an adverse reaction by the body's immune system to pets such as cats and dogs. The allergy is usually associated with the skin, saliva or urine of the animal. Animals frequently lick themselves which results in saliva sticking to the fur. Thus a person allergic to animals will often react to the fur even if it is not attached to the animal. Frequent washing of the animal may reduce symptoms. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary considerably amongst patients e.g. skin and respiratory symptoms.
  • Pfeiffer-Hirschfelder-Rott syndrome: A very rare syndrome characterized by facial and kidney anomalies and a type of dwarfism where the farthest parts of the limbs suffer the greatest degree of shortness.
  • Phacomatosis pigmentokeratotica: A very rare syndrome characterized mainly by abnormally pigmented areas on the skin which is associated with neurological problems. The skin pigmentation spreads and generally occurs only on one side of the body.
  • Phosgene oxime - eye exposure: Phosgen oxime has no useful purpose but may be manufactured for use as a chemical weapon. Eye exposure to the chemicals can cause potentially serious complications such as blindness. The severity of symptoms will vary depending on the extent and duration of the exposure.
  • Phosgene oxime exposure: Phosgene oxime has no useful purpose but may be manufactured for use as a chemical weapon. The chemical is poisonous and exposure can occur through ingestion, inhalation and absorption through the skin. Symptoms will vary depending on the method of exposure, degree of exposure and duration of exposure. The chemical can penetrate clothing.
  • Pigeon allergy: A pigeon allergy is an adverse reaction by the body's immune system to pigeons. The allergy is usually associated with the skin, feathers or excrement of the pigeon. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary considerably amongst patients e.g. skin and respiratory symptoms.
  • Plant poisoning - Amygdalin: Amygdalin is a chemical found naturally in various plants e.g. stone fruit kernels and raw almonds. Eating these parts of the plant that contain the chemical can cause symptoms of cyanide poisoning as the amygdalin is converted to cyanide by the digestive process. Obviously, the concentration of the chemical varies amongst species of plant and often, significant quantities are needed to produce symptoms. Nevertheless, severe poisoning can result in death. Amygdalin is believed by some to inhibit cancers but there has been no conclusive proof of this.
  • Plant poisoning - Cyanogenic glycoside: Cyanogenic glycoside is a toxin found naturally in various plants e.g. cherries, plums, almonds, peaches, apricots, apples and cassava. The chemical is usually concentrated in the seeds, kernels or wilted leaves. Eating these parts of the plant that contain the chemical can cause symptoms of cyanide poisoning as the cyanogenic glycoside is converted to cyanide by the digestive process. Even chewing the leaves can result in conversion to cyanide due to the presence of digestive enzymes in the mouth. Obviously, the concentration of the chemical varies amongst species of plant and often, significant quantities are needed to produce symptoms. Nevertheless, severe poisoning can result in death.
  • Polyneuropathy - Ophthalmoplegia - Leukoencehalopathy - Intestinal Pseudo-Obstruction: A rare genetic disorder which affects a number of body systems and manifests results in symptoms such as droopy eyelids, progressive eye muscle weakness, gastrointestinal dysmotility, brain disease, thin body, peripheral neuropathy and muscle disease.
  • Polysyndactyly - cardiac malformation: A very rare syndrome characterized mainly by an extra toe, webbed fingers and heart malformations.
  • Primary glaucoma, congenital: Glaucoma that is present at birth. Glaucoma is an eye condition where the pressure inside the eyeball is increased which can cause progressive vision problems. It may be a result of drainage structure abnormalities within the eye.
  • Progeria: A rare fatal genetic disorder characterized by extremely premature aging.
  • Progressive external ophthalmoplegia: The progressive occurrence of weakness in the muscles that control eye movement
  • 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.
  • Proximal tubulopathy - diabetes mellitus - cerebellar ataxia: A very rare syndrome characterized mainly by diabetes, movement disorder and kidney abnormality. Death often occurs during childhood.
  • Pseudoprogeria syndrome: A very rare syndrome characterized mainly by absent eyelashes and eyebrows as well a mental retardation.
  • Pterygium colli - mental retardation - digital anomalies: A very rare syndrome characterized mainly by mental retardation, webbed neck and finger abnormalities.
  • Pterygium syndrome multiple dominant type: A very rare syndrome characterized by joint contractures, finger webbing, difficulty fully opening mouth and scoliosis.
  • Ptosis: ptosis is an abnormally low position (drooping) of the upper eyelid
  • Ptosis - coloboma - mental retardation: A very rare syndrome characterized mainly by droopy eyelids, coloboma and mental retardation.
  • Ptosis - coloboma - trigonocephaly: A very rare syndrome characterized mainly by droopy eyelids, coloboma and triogoncephaly as well as other variable features.
  • Ptosis - strabismus - ectopic pupils: A very rare syndrome characterized mainly by droopy eyelids, crossed eyes and ectopic pupil.
  • Ptosis strabismus diastasis: A rare genetic disorder characterized by drooping eyelids, strabismus and abdominal muscle defects.
  • Puffy eyes: Swelling or puffiness around the eyes
  • Pulmonary branches stenosis: A very rare disorder where the pulmonary branches are narrower than normal. The severity of symptoms depends on the degree of narrowing.
  • Pyknoachondrogenesis: A very rare lethal syndrome characterized mainly by abnormal skeletal growth as well as abnormal bone calcification.
  • RHYNS syndrome: A rare syndrome characterized by eye, kidney and skeletal abnormalities as well as hypopituitarism.
  • Red Imported Fire ant sting: The Red Imported Fire ant is found in parts of Australia and can cause allergic reactions in susceptible people. Some people have a relatively minor allergic response whereas other develop anaphylaxis which is a life-threatening allergic response which requires urgent medical attention. The ants have a venom gland attached to a stinger located in their tail region. Ants can sting more than once.
  • Red eye: Redness of the eyes
  • Red eyelids: Redness of one or both eyelids
  • Renal tubulopathy - diabetes mellitus - cerebellar ataxia: A very rare condition characterized by rapidly progressive diabetes, kidney disease and cerebellar ataxia. Symptoms develop during the first five years.
  • Retina Conditions: Any condition that affects the retina of the eye
  • Retinal tear: A condition that is characterised by a tear in the retina of the eye
  • Rhabdomyosarcoma of the orbit: A type of tumor found around the eye area (orbit). The tumor is usually malignant.
  • 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 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.
  • Richieri Costa Guion-Almeida syndrome: A very rare syndrome characterized mainly by mental retardation, short stature, cleft lip/palate and eye anomalies.
  • Ring D2 chromosome: A rare chromosomal disorder where a portion of chromosome 2 is deleted and the two ends rejoin to form a ring. The condition results in the absence of thumbs, mental and physical retardation, toe and head abnormalities and distinctive facial features.
  • Rodent allergy: A rodent allergy is an adverse reaction by the body's immune system to rodents such as mice and rats. The allergy is usually associated with the skin, saliva or urine of rodents. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary considerably amongst patients e.g. skin and respiratory symptoms.
  • Rollet syndrome: A rare disorder involving damage to a part of the eye orbit resulting in eye problems and skin sensation abnormalities involving the forehead, temples and top of the head.
  • Rosacea: Inflammatory rash affecting cheeks, nose, forehead, chin
  • Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
  • SCARF syndrome: A rare syndrome characterized mainly by skeletal abnormalities, loose skin, premature fusion of skull bones, ambiguous genitalia, psychomotor retardation and facial abnormalities.
  • SUNCT headache: A syndrome involving a short-lived pain around one eye or on one side of the head as well as well as fluid being forced into the conjunctiva and mucous membranes of the eyelids.
  • Saethre-Chotzen Syndrome: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
  • Saethre-Chotzen syndrome, chromosome 7 p21.1p21.3: A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features of the disorder depending on the exact size and location of the portion of chromosomal material deleted. In this particular form, the chromosomal material deleted is located on chromosome 7 p21.1p21.3.
  • Satoyoshi syndrome: A very rare syndrome characterized by alopecia, diarrhea, skeletal abnormalities and painful leg cramps caused by physical exercise or emotional stress.
  • Say-Barber-Miller syndrome: A very rare syndrome characterized mainly by immune system problems and a small head.
  • Schinzel Giedion Syndrome: A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations.
  • Schopf-Schulz-Passarge syndrome: A rare syndrome characterized by thickened skin on palms and soles, missing teeth, sparse hair and eyelid cysts.
  • Schwartz-Jampel Syndrome: A rare genetic disorder characterized by myotonia, blepharophimosis and joint limitation.
  • Sclerocornea, Syndactyly, ambiguous genitalia: A very rare syndrome characterized mainly by hardening of the corneas, webbed fingers and ambiguous genitalia.
  • Sclerosteosis: A rare genetic disorder characterized by syndactyly and thickening and overgrowth of bone.
  • Scott syndrome: A very rare inherited syndrome characterized by head and digital abnormalities as well as mental retardation.
  • Sea snake poisoning: The Sea snake is a poisonous snake found in the warmer western parts of the Pacific and Indian Ocean. Sea snakes have scales but not gills or fins so they still need to go to the surface of the water to breathe. Sea snake venom is particularly poisonous but their bite fails to achieve any significant envenomation. The venom is toxic to the nervous system and muscles.
  • Seckel syndrome 3: Seckel syndrome is a rare inherited disorder mainly involving retarded growth, mental retardation, small head and a facial appearance resembling a bird. It is often referred to as bird-headed dwarfism. There are three subtypes of the disorder with type 1 being the most severe.
  • Segawa syndrome, autosomal recessive: A very rare birth disorder characterized mainly by involuntary jerky movements that start during infancy. The disorder is caused by a genetic defect resulting in a deficiency of an enzyme called tyrosine hydroxylase. The disorder is usually treatable by administering low doses of L-DOPA medication.
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis: A very rare syndrome characterized by progressive ataxia, eye muscle problems and a speech disorder (dysarthria).
  • Serpentine fibula - polycystic kidney syndrome: A very rare syndrome characterized mainly by unusual s-shaped calf bone (fibula) as well as the development of numerous cysts in the kidneys.
  • Short stature - valvular heart disease: A very rare syndrome characterized mainly by short stature and heart valve disease.
  • Short stature valvular heart disease characteristic facies: A rare condition characterized by disproportionately short legs, droopy eyelids and heart valve lesions.
  • Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
  • Shprintzen-Goldberg syndrome: A rare malformations syndrome characterized by abnormalities such as small head, eye problems, poor muscle tone, hearing problems and Hirschsprung megacolon where defective intestinal muscles are unable to move stool efficiently through the intestines.
  • Siemens syndrome: A rare inherited skin disorder where the skin around hair follicles becomes stiffened and the resulting scarring causes hair loss.
  • Sinus cancer: Cancer that originates from the mucosal tissue lining the sinus cavities or rarely from the bone itself.
  • Sinusitis: Inflammation of the sinus passages (as a symptom)
  • Skeletal dysplasia - orofacial anomalies: A very rare disorder characterized mainly by face, mouth and skeletal abnormalities.
  • Skin Cancer: The occurrence of a malignancy that is located on the skin
  • Skin cancer: The occurrence of a malignancy that is located on the skin
  • Smith-Fineman-Myers syndrome 1: A rare inherited disorder characterized mainly by mental retardation and low facial muscle tone. The genetic defect occurs on chromosome Xq13.
  • Smith-Lemli-Opitz Syndrome: A rare genetic condition involving a severe defect in the process of cholesterol synthesis resulting in low cholesterol levels in cells but high levels of the chemicals that are made into cholesterol.
  • Sparrow allergy: A sparrow allergy is an adverse reaction by the body's immune system to sparrows. The allergy is usually associated with the skin, feathers or excrement of the bird. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary considerably amongst patients e.g. skin and respiratory symptoms.
  • Sparse hair - ptosis - mental retardation: A very rare syndrome characterized mainly by sparse hair, droopy eyelids and mental retardation.
  • Spastic paraplegia - neuropathy - poikiloderma: A very rare syndrome characterized mainly by progressive stiffness and weakness of the legs, peripheral nerve degeneration and a skin disorder called poikiloderma. The eyelashes and eyebrows are usually gone by the age of three.
  • Spinocerebellar ataxia 17: A rare genetic disorder (chromosome 6q27 defect) characterized by . Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
  • Spinocerebellar ataxia 28: A rare genetic disorder (chromosome 18p11 defect) characterized by eye muscle paralysis (ophthalmoplegia) and increased reflexes. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
  • Spring catarrh: An allergic eye condition where an abnormal immune system reaction to an allergen results in inflammation of the conjunctiva of the eye (thin clear lining covering the eye and lining the inside of the eyelids). Symptoms tend to be more common in spring and summer due to the increased presence of potential airborne allergens.
  • Stiff-Person Syndrome: A very rare progressive neurological disorder involving muscle tightness and painful muscle spasms.
  • Stratton-Parker syndrome: A very rare syndrome characterized by short stature, heart positioned on the wrong side of the chest (dextrocardia) and a bone development anomaly.
  • Striped Blister Beetle poisoning: The striped blister beetle is native to many parts of America and Canada. Animals that accidentally eat the beetles can become quite ill and they can also cause symptoms in humans if accidentally ingested. The beetles contain toxic substances called cantharidin and pederin which can cause symptoms through skin or eye exposure as well as through ingestion.
  • Stye: inflammation of the glands in the eyelids
  • Styes: inflammation of the glands in the eyelids
  • Subpulmonary stenosis: A narrowing in the artery that allows blood to flow from the right heart ventricle to the lungs in order to be oxygenated. Severity of symptoms is determined by the degree of narrowing.
  • 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 - cataract - mental retardation: A very rare syndrome characterized mainly by webbed fingers and toes, cataract and mental retardation.
  • Tardive dyskinesia: The toxic neurological side effects of neuroleptic drugs that have been used long term.
  • Tear symptoms: Symptoms affecting the eye's ability to tear
  • Teebi-Shaltout syndrome: A very rare syndrome characterized by various facial and head abnormalities.
  • Thompson-Baraitser syndrome: A very rare syndrome characterized mainly by liver fibrosis, kidney cysts and mental retardation.
  • Thyroid agenesis: A rare disorder where the thyroid fails to develop resulting in hypothyroidism from birth.
  • Tolosa-Hunt Syndrome: A rare disorder characterized by severe headaches and paralysis and weakness of eye muscles.
  • Torsion dystonia 7: A rare inherited movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. Usually the onset of symptoms is focused on one part of the body, usually the neck, eyes or hands.
  • Tourette Syndrome: A neurological disorder involving vocal and movement tics where where uncontrollable movements or verbal utterances are made.
  • Trachoma: Chronic bacterial eye condition in the developing world
  • Treacher-Collins Syndrome: A rare genetic disorder characterized by malar hypoplasia, down-slanting palpebral fissures, defect of lower eye lid and malformation of external ear.
  • Treft-Sanborn-Carey syndrome: A rare syndrome characterized by a variety of eye problems, deafness and muscle disease.
  • Trichinosis: Worm infection usually caught from pigs
  • Tricho odonto onycho dermal syndrome: A very rare syndrome characterized by hair, tooth, nail and skin abnormalities.
  • Trigonocephaly - bifid nose - acral anomalies: A rare syndrome characterized mainly by a prominent triangular shaped forehead, short head, bulbous nose, small jaw, large mouth, poor muscle tone and foot abnormalities.
  • Trigonocephaly - broad thumbs: A rare syndrome characterized mainly by broad thumbs and a prominent triangular shaped forehead.
  • Trigonocephaly - ptosis - coloboma: A rare syndrome characterized by droopy eyelids, brain malformation, a triangular shaped prominent forehead and an eye abnormality.
  • Trigonocephaly - ptosis - mental retardation: A very rare syndrome characterized mainly by droopy eyelids, mental retardation and a triangular shaped forehead.
  • Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Edwards syndrome is more severe than the more common Down syndrome. Edwards syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Trisomy 18 mosaicism: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18 in only some of the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved.
  • Trisomy 22 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 22 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Tucker syndrome: A rare syndrome characterized by vocal cord paralysis and droopy eyelids.
  • Tukel syndrome: A rare syndrome involving restricted eye movement and droopy eyelid and hand deformities affecting primarily the right eye and right hand.
  • Turkey allergy: A turkey allergy is an adverse reaction by the body's immune system to turkeys. The allergy is usually associated with the skin, feathers or excrement from the turkey. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that can result can vary considerably amongst patients e.g. skin and respiratory symptoms.
  • Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
  • Unusual facies, hepatic fibrosis, renal cysts and mental retardation: A rare syndrome characterized mainly by liver fibrosis, unusual facial appearance, kidney cysts and mental retardation.
  • Unusual facies, mental retardation, short stature, hemolytic anemia and delayed puberty: A rare syndrome characterized mainly by an unusual facial appearance, mental retardation, short stature, hemolytic anemia and delayed puberty.
  • Van Bogaert-Hozay syndrome: A rare disorder characterized by destruction of ends of finger bones, mental retardation, skin wasting and eye and facial abnormalities.
  • Verloes-David Syndrome: An inherited condition characterised by shortness of stature and multiple skeletal abnormalities.
  • Vernal keratoconjunctivitis: A rare allergic type of conjunctivitis (inflammation of the lining of the eyelid and most of the eye) which occurs seasonally in warm weather
  • Visceral myopathy familial external ophthalmoplegia: A very rare form of muscle wasting disease involving the eye and gastrointestinal muscles.
  • Vitiligo: A condition which is characterized by chronic pigmentary changes to the skin seen by white patches
  • Vogt-Koyanagi-Harada Syndrome: A rare condition characterized by poliosis and hair, skin, eye and ear abnormalities as well as retinal detachment and neurological involvement.
  • WAGR Syndrome: A syndrome that is due to the deletion of chromosome 11.
  • Waardenburg syndrome, type 3: A rare syndrome involving deafness, pigmentation and musculoskeletal abnormalities
  • Wallenberg's Syndrome: A rare neurological condition caused by a stroke (involving the cerebellar artery) and resulting in symptoms such as facial paralysis or weakness on one side of body.
  • Watson syndrome: A rare syndrome characterized by short stature, reduced intelligence, café au lait spots and narrowing of pulmonary valves.
  • Wellesley-Carman-French Syndrome: A rare syndrome characterized by cataracts, growth problems and abnormal mouth tissue (frenulum).
  • Wernicke-Korsakoff syndrome: A rare degenerative brain disorder caused by thiamine (Vitamin B1) deficiency. Chronic alcoholics are prone to this condition.
  • West African Trypanosomiasis: West African sleeping sickness from the tsetse fly
  • 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.
  • Wolfram Syndrome 2: Wolfram Syndrome is a condition characterized by the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Type 2 is the result of a genetic defect and is similar to type 1 but there is no diabetes insipidus and patients tend to develop gastrointestinal problems.
  • Wyburn Mason's syndrome: A rare genetic condition mainly involving enlarged brain blood vessels and skin and eye abnormalities.

 » Next page: Surveys

Rate This Website

What do you think about the features of this website? Take our user survey and have your say:

Website User Survey

Medical Tools & Articles:

Next articles:

Tools & Services:

Medical Articles:

Forums & Message Boards

 
HONcode We subscribe to the HONcode principles

By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise