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Symptoms » Skeletal symptoms » Glossary
 

Glossary for Skeletal symptoms

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

  • 11q Partial Trisomy: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
  • 14q+ syndrome: A rare chromosomal disorder involving duplication of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
  • 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 proximal deletion: A rare chromosomal disorder where the proximal part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities.
  • 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.
  • 2-Hydroxyglutaricaciduria: A rare metabolic disorder characterized by high levels of a certain chemical (2-Hydroxyglutaric) which causes a serious progressive neurological disease and damage to the brain. The features of this disorder are variable and some cases are milder than others.
  • 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
  • 2p21 deletion syndrome: This syndrome is a more severe form hypotonia-cystinuria syndrome as a larger portion of genetic material from chromosome 2p21 is deleted. It is characterized by infant seizures, reduced muscle tone, developmental delay, lactic acidosis and unusual facial appearance.
  • 2q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 2q22-q24 deletion: A rare chromosomal disorder where part of the long arm (q22-q24) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 3-Hydroxyisobutyric aciduria: A rare inborn metabolic disorder which causes brain and facial anomalies, seizures and growth problems.
  • 3-M Syndrome: A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected.
  • 3C syndrome: A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name.
  • 3q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 46,XX chromosome 7 deletion p13: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • 46,XX testicular DSD: A sex chromosome disorder in males which affects gonadal development and causes infertility. Males have XX chromosomes instead of the normal XY.
  • 46,XX testicular disorder of sex development: A sex chromosome disorder in males which affects gonadal development and causes infertility. Males have XX chromosomes instead of the normal XY.
  • 47 XYY syndrome: A genetic condition where males have an extra Y chromosome in each of their cells. Normally male cells have one X and one Y chromosome. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
  • 47,XXX syndrome: A genetic condition where females have an extra X chromosome in each of their cells. Normally female cells have two X chromosomes. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
  • 49,XXXXX syndrome: A rare chromosomal disorder that affects only females and involves body cells having five copies of the X chromosome instead of the normal two.
  • 49,XXXXY syndrome: A rare sex chromosome abnormality where there are three extra copies of the X chromosome.
  • 4p16.3 deletion: A rare genetic disorder where a portion of chromosome 4 is deleted at a location called 16.3. The condition is characterized by malformations in most parts of the body as the deletion affects growth and development of the fetus.
  • 7p2 Monosomy Syndrome: A rare chromosomal disorder where there is one copy of the end 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 deleted.
  • 8p-Syndrome, partial: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
  • ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • AIDS dysmorphic syndrome: A rare syndrome involving craniofacial anomalies and developmental delay that occurs in infants infected with AIDS during the fetal stage.
  • ALL-Down syndrome: The presence of acute lymphoblastic leukemia in Down syndrome patients. These patients tend to have a poorer prognosis for the leukemia than patients without Down syndrome.
  • AREDYLD: A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes.
  • ATRUS syndrome: A rare syndrome characterized by fusion of the forearm bones near the elbow and a blood disorder.
  • Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
  • Abderhalden-Kaufmann-Lignac syndrome: A rare inherited childhood disorder involving deposits of cystine crystals in various parts of the body, especially the conjunctiva and cornea.
  • Abdominal Cancer: Growth of abnormal cells (tumour) affecting the organs in the abdominal cavity; may be due to primary growth of a tumour or spread from another tumour (metastases, secondary tumour)
  • Abidi X-linked mental retardation syndrome: A rare genetic disorder characterized by a number of physical abnormalities
  • Abnormal bowing of bones in children: Abnormal bowing of bones in children is an abnormality or deformity of the bones in children.
  • Abnormal carrying angle of elbow in children: Abnormal carrying angle of elbow in children is an abnormality of a child's elbow.
  • Abnormal curvature of the spine: Abnormal curvature of the spine is a deformity or irregular curve of shape of the spine in the back.
  • Abnormal head shape in children: Abnormal head shape in children is skull that is irregular or deviates from the normal head shape, possibly indicating pathology.
  • Abnormal rib number: Abnormal rib number is more ribs or fewer ribs than the normal amount.
  • Abruzzo Erickson syndrome: A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness.
  • Absent abdominal musculature with microphthalmia and joint laxity: A rare disorder characterized mainly by small eyes, loose joints, a lack of abdominal muscles and facial anomalies.
  • Absent alpha 1 band: An absence of alpha-1-antitrypsin the the body
  • Absent patellae -- scrotal hypoplasia -- renal anomalies -- facial dysmorphism -- mental retardation: A rare syndrome characterized by absent kneecaps, underdeveloped scrotum, kidney anomalies, unusual facial appearance and mental retardation.
  • Acalvaria: A rare congenital condition where the skull cap is missing but the rest of the face and base of the skull is normal. The skin of the scalp simply covers the brain with no protective skull bone under it.
  • Acanthocheilonemiasis: A rare tropical infection caused by a particular threadworm usually found in Africa. It may cause skin rashes, muscle and joint pains, neurologic disorders and skin lumps. The cerebrospinal fluid may also contain the larvae.
  • Acanthocytosis: A rare disorder where most of the red blood cells are abnormal with spiny projections due to lipid abnormalities. The blood abnormality is seen in conditions such as abetalipoproteinemia, severe liver disease and severe malnutrition. Symptoms and prognosis depend on the underlying disorder.
  • Accessory bone pain in children: Accessory bone pain in children is any discomfort or pain in the accessory bones in children.
  • Acetaminophen -- Teratogenic Agent: There is strong evidence to indicate that exposure to Acetaminophen during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Achalasia -- Addisonianism -- Alacrimia syndrome: A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide.
  • Achalasia -- addisonianism -- alacrima syndrome: A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide.
  • Achalasia -- adrenal -- alacrima syndrome: A familial disorder characterized by adrenal gland-related hormonal problems, swallowing difficulty (achalasia) and a lack of tears (alacrima). Neurological impairment and motor and sensory neuropathy is progressive. The adrenal glands in patients are resistant to the ACTH hormone and hence fails to operate normally.
  • Achard syndrome: An inherited connective tissue disorder characterized primarily by a short head, long, slender bones, recessed lower jaw and loose hand and foot joints.
  • Achilles tendon stiff: tendon stiffness due to physical trauma or abnormal muscle contraction.
  • Aching joints: A sensation of aching located in the joints
  • Achondrogenesis: A type of dwarfism where the main limbs are short and the head and trunk are hydropic (contain an accumulation of clear fluid).
  • Achondrogenesis type 1A: A rare genetic disorder characterized by abnormal cartilage formation and growth of bones. Type 1A differs from other types by the origin of the genetic defect. Type 1A involves abnormal cartilage-forming cells (chondrocytes) whereas type 1B involves an abnormal cartilage matrix. Type 1B is the most severe disorder.
  • Achondrogenesis type 1A and 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
  • Achondrogenesis type 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
  • Achondrogenesis type 2: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
  • Achondrogenesis, Langer-Saldino Type: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
  • Achondrogenesis, type 3: Severely abnormal bone development which invariably results in death before or soon after birth. Type III may actually be a part of achondrogenesis type II.
  • Achondrogenesis, type 4: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death. It has been designated as a mild form of Langer-Saldino achondrogenesis.
  • Achondroplasia: A rare disease characterized by abnormal bone growth which results in short stature with short arms and legs, large head and characteristic facial features.
  • Achondroplasia regional -- dysplasia abdominal muscle: A rare syndrome characterized mainly by abnormal bone development of the ilium, ribs and abdominal muscles. The abdominal muscles tend to become more develope with increasing age.
  • Acid phosphatase deficiency: A group of inherited metabolic bone disorders varying in degree of severity and characterized a deficiency of alkaline phosphate which affects bone mineralization.
  • Acid-Base Imbalance: A disruption to the normal acid-base equilibrium in the body. There are four main groups of disorder involving an acid-base imbalance: respiratory acidosis or alkalosis and metabolic acidosis or alkalosis. Obviously the severity of symptoms is determined by the degree of imbalance.
  • Acidosis: The accumulation of hydrogen ions or the depletion of the alkaline reserve in the body.
  • Acinic cell carcinoma: A usually slow-growing malignant tumor that that can occur in various parts of the body but is most often found in the pancreas, salivary glands, palate and upper lip. Symptoms are determined by the size and location of the growth.
  • Acitretin- Teratogenic Agent: Reports indicate that the use of Acitretin during pregnancy may cause various harmful effects on the fetus. The likelihood and severity of symptoms may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at. Acitretin should not be taken by women who are pregnant or planning on becoming pregnant.
  • Ackerman Dermatitis Syndrome: A rare condition characterized by the association of skin and joint symptoms. It is characterized by arthritis preceded by a skin rash (interstitial granulomatous dermatitis) which can vary in appearance from person to person. The condition tends to go through periods of flares and remission.
  • Ackerman syndrome: An extremely rare condition characterized primarily by glaucoma, upper lip deformity and abnormal tooth roots.
  • Acne-like behind-knee skin symptoms: reddish raised elevated patches on the skin behind the knee
  • Acne-like elbow skin symptoms: reddish raised elevated lesions on the elbow
  • Acne-like knee skin symptoms: acne is a disorder of the pilosebaceous unit. The inflammatory process varies from a papule, pustule to a nodule
  • Acro coxo mesomelic dysplasia: A rare inherited form of dwarfism characterized mainly by shortening of the middle and end parts of the limbs.
  • Acro-pectoro-renal field defect: A very rare genetic syndrome characterized by abnormalities of the genital and urinary systems as well as the absence of chest muscles at birth.
  • Acro-reno-ocular syndrome: A disorder characterized by eye abnormalities, kidney defects and abnormalities of the arm and hand bones.
  • Acrocallosal syndrome: A rare genetic disorder characterized by underdeveloped or absent corpus callosum of brain, duplication of thumb or big toe and extra fingers or toes.
  • Acrocapitofemoral dysplasia: A rare inherited disorder characterized mainly by short limbs, dwarfism and cone-shaped epiphyses mainly in the hands and hips.
  • Acrocephalopolydactyly: A rare genetic condition characterized by limb abnormalities, extra digits and hydrocephalus. Other additional symptoms are variably present.
  • Acrocephalopolydactyly -- Cardiac Disease -- Ear, Skin and Lower Limb Defects: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalopolydactyly II: A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation.
  • Acrocephalopolysyndactyly type III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalopolysyndactyly, type 2 (ACPS 2): A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Acrocephalosyndactyly: A group of inherited disorders characterized by abnormalities involving the skull, face, hands and feet. Apert, Pfeiffer and Crouzon syndrome are examples of various types of the disorder.
  • Acrocephalosyndactyly II: A rare inherited disorder characterized primarily by premature closure of skull bones, fusion of fingers and toes and eye and face abnormalities.
  • Acrocephalosyndactyly Syndrome type 5: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrocephalosyndactyly type 3 (ACPS 3): A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
  • Acrocephalosyndactyly type 5 (ACPS 5): A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrodysostosis: A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities.
  • Acrodysplasia scoliosis: A rare inherited genetic disorder characterized by short fingers and toes, scoliosis and other spine anomalies.
  • Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia: A rare inherited disorder characterized by short stature, underdeveloped calf bones and abnormalities of the hand and foot bones.
  • Acrofacial dysostosis Catania form: One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare.
  • Acrofacial dysostosis Preis type: One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable.
  • Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
  • Acrofacial dysostosis atypical postaxial: A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features.
  • Acrofacial dysostosis autosomal recessive: A rare inherited disorder characterized mainly by facial, hand and foot anomalies. The disorder resembles Nager syndrome.
  • Acrofacial dysostosis postaxial, atypical: A rare disorder characterized by an unusual facial appearance, short stature and hand and foot bone anomalies. The disorder may be related to the fact that the infants were born to mothers with diabetes.
  • Acrofacial dysostosis, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
  • Acrofacial dysostosis, Palagonia type: One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.
  • 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.
  • Acrogeria (Gottron Type): An extremely rare, mild form of progeria.
  • Acromegaloid hypertrichosis syndrome: A rare genetic condition characterized by excess body hair and a coarse face. The severity of the condition is variable.
  • Acromegaloid, Cutis Verticis Gyrata, Corneal Leukoma Syndrome: A rare condition characterized by the association of acromegaly, cutis verticis gyrate and corneal leukoma.
  • Acromegaly: An abnormal enlargement of the limbs due to increased secretion of growth hormone after the cessation of puberty
  • Acromegaly due to growth hormone-secreting pituitary adenoma: Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors.
  • Acromesomelic dysplasia: A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis.
  • Acromesomelic dysplasia Brahimi Bacha type: A very rare genetic malformation syndrome characterized primarily by developmental abnormalities of the face and skeletal bones.
  • Acromesomelic dysplasia Campailla Martinelli type: A form of dwarfism where the main shortening occurs in the lower legs and arms.
  • Acromesomelic dysplasia Hunter Thompson type: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones.
  • Acromesomelic dysplasia, Maroteaux type: A rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies.
  • Acromicric dysplasia: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones and facial anomalies.
  • Acromioclavicular separation: Separation of collarbone (clavicle) and the shoulder blade.
  • Acromioclavicular separation on both sides: Acromioclavicular separation (AC separation) on both sides is a type of should separation on both shoulders.
  • Acroosteolysis dominant type: A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes.
  • Acroosteolysis neurogenic: A very rare inherited condition characterized mainly by the loss of all sensations - the lose the ability to feel pain, temperature and touch. The loss of sensation generally starts at the toes and fingers and spreads up the limbs and the trunk may also be involved in some cases.
  • Acropectorovertebral dysplasia: A rare inherited genetic disorder characterized by abnormalities involving the fingers, toes, palate and chest bones.
  • Acrorenal mandibular syndrome: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
  • Acrosphenosyndactylia: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Acutane embryopathy: A rare disorder caused by fetal exposure to retinoids and resulting in mental and physical birth defects.
  • Acute 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.
  • Acute acne-like behind-knee skin symptoms: reddish raised elevated patches on the skin behind the knee
  • Acute acne-like elbow skin symptoms: reddish raised elevated lesions on the elbow
  • Acute acne-like knee skin symptoms: acne is a disorder of the pilosebaceous unit. The inflammatory process varies from a papule, pustule to a nodule
  • Acute cholinergic dysautonomia: A rare condition characterized by the presence of abnormal red blood cells in the bone marrow and blood. The condition is characterized by anemia and generally leads to the development of acute myelogenous leukemia. The acute form has more severe symptoms than the chronic form.
  • Acute chronic joint pain: pain in the joints
  • Acute chronic knuckle pain: severe pain of the heads of the metacarpal bones
  • Acute chronic pain in multiple bones: occurs during physical exercise and is relieved by rest. It usually is a feature of arterial abnormality
  • Acute chronic spinal pain: diseases of the spinal cord
  • Acute chronic tailbone pain: pain due to lesions in the coccyx
  • Acute collarbone pain: acute pain due to pathologies related to the clavicle
  • Acute elbow pain: conditions of the elbow which can cause acute pain for a long period of time
  • Acute erythroleukemia: A rare condition characterized by the presence of abnormal blood cells (erythroblastic precursors) in the bone marrow and blood. The condition is characterized by anemia and generally leads to the development of acute myelogenous leukemia. The acute form has more severe symptoms than the chronic form.
  • Acute gout: An acute condition which is caused by a disorder of purine or pyrimidine metabolism resulting in inflammatory arthritis
  • Acute gouty arthritis:
  • Acute hemorrhagic leukoencephalitis: A rare degenerative brain disease where the patient suffers edema, many small hemorrhages, necrosis of blood vessel walls, demyelination of nerve fibers. Histiocytes, lymphocytes and neutrophils also enter the meninges. Symptoms include severe headache, fever, vomiting and sometimes convulsions and unconsciousness. Also called acute hemorrhagic leukoencephalitis.
  • Acute ichthyosis-like behind-knee skin symptoms: rough and dry skin behind the knee
  • Acute ichthyosis-like elbow skin symptoms: rough elbow skin
  • Acute ichthyosis-like knee skin symptoms: rough skin on the knee
  • Acute injuries of both knees related to sports: Acute injuries of both knees related to sports is the sudden onset of sports-related trauma to the knees.
  • Acute injuries of the knee related to sports: The knee joint is the largest joint in the body, consisting of 4 bones and an extensive network of ligaments and muscles. Injuries to the knee joint are amongst the most common in sporting activities.
  • Acute leukaemia of ambiguous lineage: A term used to describe a type of leukemia (a blood cancer) where the leukemic cells cannot be determined as myeloid or lymphoid or where both types of cells are present.
  • Acute leukemia: An acute condition which affects a cell line of the blood which shows little or no differentiation
  • Acute lymphoblastic leukemia: A malignant disease that starts suddenly and progresses quickly. It is characterized by a high number of immature cells in the organs, bone marrow and blood. Symptoms include fever, pallor, anorexia, fatigue, anemia, hemorrhage, bone pain, splenomegaly and frequent infections. Also called acute lymphocytic leukemia.
  • Acute lymphoblastic leukemia, Susceptibility to: Cancer of the white blood cells characterized by the presence of excessive lymphoblasts. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are two subtypes of leukemia linked to a genetic anomaly which increases a person's susceptibility to developing the cancer. Type 1 is linked to a defect on chromosome 10q21 and type 2 is linked to a defect on chromosome 7p12.2.
  • Acute lymphoblastic leukemia, Susceptibility to, 1: Cancer of the white blood cells characterized by the presence of excessive lymphoblasts. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are two subtypes of leukemia linked to a genetic anomaly which increases a person's susceptibility to developing the cancer. Type 1 is linked to a defect on chromosome 10q21.
  • Acute lymphoblastic leukemia, Susceptibility to, 2: Cancer of the white blood cells characterized by the presence of excessive lymphoblasts. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are two subtypes of leukemia linked to a genetic anomaly which increases a person's susceptibility to developing the cancer. Type 2 is linked to a defect on chromosome 7p12.2.
  • Acute lymphoblastic leukemia, adult: Cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets.
  • Acute lymphocytic leukemia: A malignant disease that starts suddenly and progresses quickly. It is characterized by a high number of immature cells in the organs, bone marrow and blood. Symptoms include fever, pallor, anorexia, fatigue, anemia, hemorrhage, bone pain, splenomegaly and frequent infections. Also called acute lymphoblastic leukemia.
  • Acute megacaryoblastic leukemia: A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of blood cells. More specifically, it involves the rapid proliferation of megakaryoblasts (premature form of megakaryocytes).
  • Acute meningitis: Acute meningitis is an inflammation of the brain that presents in an acute fashion. The inflammation may be the result of infective agents such as bacteria, viruses and fungi as well as non-infective agents such as certain drugs. Acute forms of meningitis can develop in within hours or days whereas chronic meningitis develops over weeks or months.
  • Acute myeloblastic leukemia type 1: A form of blood cancer resulting in the rapid proliferation of immature blood cells (blast cells).
  • Acute myeloblastic leukemia type 2: A form of blood cancer resulting in the rapid proliferation of granulocytes and monocytes.
  • Acute myeloblastic leukemia type 3: A rare form of malignant bone marrow cancer involving the rapid proliferation of immature precursors of blood cells. Type 3 involves the proliferation of promyelocytes.
  • Acute myeloblastic leukemia type 4: A rare form of malignant bone marrow cancer involving the rapid proliferation of immature precursors of blood cells. Type 4 involves the rapid proliferation of myelocytes and monocytes.
  • Acute myeloblastic leukemia type 5: A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of blood cells. Type 5 involves the rapid proliferation of monoblasts (immature precursors of monocytes) in particular.
  • Acute myeloblastic leukemia type 6: A rare form of malignant bone marrow cancer involving the rapid proliferation of immature precursors of blood cells. Type 6 involves the proliferation of the immature precursors of red blood cells called erythroblasts.
  • Acute myeloblastic leukemia type 7: A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of blood cells. Type 7 involves the rapid proliferation of megakaryoblasts (premature form of megakaryocytes) in particular.
  • Acute myelocytic leukemia: A malignant cancer of blood-forming tissues resulting in a high number of immature leukocytes. Symptoms include soft bleeding gums, anemia, fatigue, fever, dyspnea, moderate splenomegaly, joint and bone pains and frequent infections. Also called acute granulocytic leukemia, acute myelogenous leukemia, acute nonlymphocytic leukemia, myeloid leukemia, splenomedullary leukemia, splenomyelogenous leukemia.
  • Acute myeloid leukaemia and myelodysplastic syndromes related to alkylating agent: The use of alkylating agents to treat cancer can result in leukemia in some patients.
  • Acute myeloid leukaemia and myelodysplastic syndromes related to topoisomerase type II inhibitor: The use of topoisomerase type II inhibitors to treat cancer can result in leukemia in some patients.
  • Acute myeloid leukaemia and myelodysplastic syndromes, therapy related: Certain cancer therapies can result in the development of leukemia in some patients. These therapies includes topoisomerase type II inhibitors and alkylating agents.
  • Acute myeloid leukemia: A form of rapidly progressing blood cancer resulting in the rapid proliferation of granulocytes and monocytes, red blood cells and platelets.
  • Acute myeloid leukemia, adult: A form of blood cancer resulting in the rapid proliferation of granulocytes and monocytes, red blood cells and platelets.
  • Acute myelosclerosis: A rare disorder where the bone marrow makes too many blood cells. The disease progresses rapidly with death usually occurring within 6 months of onset.
  • Acute non lymphoblastic leukemia: A form of rapidly progressing blood cancer resulting in the rapid proliferation of granulocytes and monocytes, red blood cells and platelets. It is one of the most common forms of leukemia in adults but can occur in children.
  • Acute pain in multiple joints: it could be in the form of pain and swelling
  • Acute pelvic inflammatory disease:
  • Acute pelvic pain in children: Acute pelvic pain in children is a condition in which there is a sudden onset of pain or discomfort in the pelvis of a child.
  • Acute promyelocytic leukemia: A rare bone marrow cancer characterized by a lack of mature blood cells and excessive amounts of immature blood cells (promyelocytes).
  • Acute prostatitis: An acute condition which affects the prostate which is the result of infammation
  • Acute psoriasis-like behind-knee rash: Psoriasis like plaques on the chest may be seen in a few cases such as
  • Acute psoriasis-like elbow rash: Psoriasis like plaques on the elbow may be seen in a few cases such as
  • Acute psoriasis-like knee rash: Psoriasis is a noncontagious skin disorder that most commonly appears as inflamed, edematous skin lesions covered with a silvery white scale. The most common type of psoriasis is plaque psoriasis. Psoriasis like plaques on the knee may be seen in a few cases such as
  • Acute rheumatic fever: Bacterial joint infection with risk of heart complications.
  • Acute sinusitis: An acute inflammation of the sinuses
  • Acutely arched back: also known as opisthotonus, is a state of extreme hyperextension and of the head, neck and spinal column
  • Acyclovir -- Teratogenic Agent: There is strong evidence to indicate that exposure to Acyclovir during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Adactyly: Congenital absence of fingers or toes.
  • Adamantinoma: A very aggressive malignant cancer of the jaw. Also called ameloblastoma, adamantoblastoma or epithelioma adamantinum.
  • Adams-Oliver Syndrome: A very rare inherited disorder characterized by scalp, skull and limb abnormalities. The range and severity of the symptoms can vary greatly from mild to severe.
  • Adducted thumb syndrome recessive form: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Adducted thumbs -- arthrogryposis, Christian type: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Adducted thumbs Dundar type: A rare disorder characterized by a thumb abnormality as well as mental retardation, foot defects and other anomalies.
  • Adenocarcinoma, Clear Cell: A type of cancer that occurs mainly in the genitourinary tract and the cells that make up the tumor are clear. It is very rare and most cases occur in females whose mothers used a drug called DES (synthetic estrogen) while pregnant.
  • Adenomyosis: presence of ectopic endometrial tissue in the myometrium
  • Adenosarcoma of the uterus: A tumor that develops from the glands that line the uterus.
  • Adnexal tenderness: Tenderness of the appendages or secondary structures of the uterus.
  • Adolescent idiopathic scoliosis: A condition which occurs to an adolescent without any known cause resulting in scoliosis of the spine
  • Adrenal Cancer: A malignant cancer that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids. Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
  • Adrenal Cortex Diseases: Diseases of the adrenal cortex. Examples includes Addison's disease, Cushing's syndrome and adrenal fatigue.
  • Adrenal Cortex Neoplasms: A tumor that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids.
  • Adrenal adenoma, familial: A benign tumor that develops in the adrenal gland and tends to run in families. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids . Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
  • Adrenal crisis: A potentially fatal condition where the adrenal cortex slows or stops functioning resulting in reduced glucocorticoids, decreased extracellular fluid volume and hyperkalemia. Symptoms include shock, coma, low blood pressure, weakness and loss of vasomotor tone. Also called addisonian crisis.
  • Adrenal gland hyperfunction: Excessive activity of the adrenal gland which causes excessive production of one or more adrenal hormones (aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine). The increased adrenal gland activity may be caused by an adrenal gland tumor or by excessive stimulation of the gland. Pituitary hormones stimulate adrenal gland activity.
  • Adrenal gland hypofunction: Reduced adrenal gland activity due to damage to the adrenal gland or lack of stimulation of the gland. Pituitary hormones stimulate adrenal gland activity.
  • Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency: A rare form of congenital adrenal hyperplasia characterized by a deficiency of 11-Beta-hydroxylase which results in excess androgen production and hypertension. The disorder can occur in virilizing, hypertensive and salt-wasting forms and symptoms may range from mild to severe.
  • Adrenal hypofunction: A condition which is characterized by a lack of production of hormones from the adrenal gland.
  • Adrenal hypoplasia congenital, X-linked: A genetic disorder which affects the body tissues that produce hormones. It is characterized by underdeveloped adrenal glands which results adrenal insufficiency and hypogonadotrophic hypogonadism.
  • Adrenal incidentaloma: A tumor of the adrenal gland that is discovered incidentally while performing an imaging examination for reasons other than an adrenal tumor. The tumor may be asymptomatic or can causes excessive secretion of adrenal hormones and resulting symptoms. The tumor may also be malignant or benign.
  • Adrenocortical carcinoma: A condition which is characterized by malignancy which affects the adrenocortex.
  • Adrenoleukodystrophy, autosomal, neonatal form: A rare inherited disorder involving the adrenal glands, testes and certain parts of the brain (white matter). It is a less severe form of leukodystrophy where an abnormality within the body cells prevents the metabolism of certain fats (long chain fatty acids).
  • Adult Cystic Fibrosis: Cystic fibrosis is an inherited condition characterized by the production of thick sticky mucus by the mucus glands in the lungs, intestines, liver and pancreas. The condition is most often diagnosed in children or young adults but occasionally, relatively mild symptoms may lead to frequent misdiagnosis or no diagnosis at all unless the symptoms become worse. The condition may be misdiagnosed as emphysema, asthma or chronic bronchitis. It is usually females with a mild form of the disease who tend to be diagnosed at a later age.
  • Adult Fibrosarcoma: A malignant tumor that develops from fibroblasts (cells that produce connective tissue) and tends to occur in soft tissue or in areas surrounding bones. Adult fibrosarcoma tends to affect mainly deep soft tissue, trunk, head, neck and upper arms and legs. Symptoms are determined by the size and location of the tumor. The tumors are usually slow growing and can metastasize.
  • Adult hypophosphatasia: An rare inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate. The condition involves the early loss of primary teeth and childhood rickets followed by a reasonable health until mid-adulthood when dental and skeletal abnormalities again become prevalent.
  • Adult onset Still's disease: A form of Still's disease that has a later onset and involves arthralgia or arthritis and a characteristic rash that often appears during periods of temperature increase.
  • African Sleeping sickness: A disease caused by parasites (Trypanosome brucei gamiense or T. brucei rodesiense) and transmitted to humans by the tsetse fly which is found only in Africa. Causes symptoms such as fever, chills, headache, anemia, edema of hands and feet, enlarged lymph glands, lethargy, sleepiness, convulsions and coma. Also called African trypanosomiasis and sleeping sickness.
  • Agammaglobulinemia -- microcephaly -- craniosynostosis -- severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Agammaglobulinemia, microcephaly, and severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Agenesis of the corpus callosum -- mental retardation -- coloboma -- micrognathia: A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly.
  • Aggressive systemic mastocytosis: The excessive proliferation of mast cells. Mast cells control the skin's response to minor injury and release a chemical called histamine which causes the skin to redden. In the aggressive form, mast cells accumulate in the liver, spleen and lymphatic system.
  • Aglossia-Adactylia syndrome: A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Other malformations are also variably present.
  • Aglossia-Hypoactylia syndrome: A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Other malformations are also variably present.
  • Agnathia-holoprosencephaly-situs inversus: A very rare disorder characterized by a small or absent jaw, developmental brain defect and internal organs situated on the wrong side of the body (situs inversus). The severity and range of symptoms is variable.
  • 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 .
  • Akaba-Hayasaka syndrome: A very rare syndrome characterized mainly by a prominent forehead, cloudy corneas, low nasal bridge, underdeveloped chest and short limbs.
  • Akesson syndrome: A very rare syndrome characterized by excessive skin folds and furrows on the scalp, mental retardation the failure of the thyroid to develop.
  • Al Awadi syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis.
  • Al Awadi-Raas-Rothschild syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis. The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related.
  • Al Gazali Aziz Salem syndrome: A rare syndrome characterized mainly by heart disease, short stature and a webbed neck.
  • Al Gazali Hirschsprung syndrome: A rare disorder characterized by Hirschsprung disease (an intestinal disorder), nail abnormalities and facial anomalies.
  • Al Gazali-Khidr-Prem Chandran: A very rare syndrome characterized mainly by short stature, eye problems and an unusual cherubic facial appearance.
  • Al Gazali-Khidr-Prem Chandran syndrome:
  • Alagille syndrome: A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver.
  • Albers-Schonberg disease -- Adult benign dominant form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The adult benign form is associated with a normal life expectancy and is often asymptomatic.
  • Albers-Schonberg disease -- intermediate form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The intermediate form is more severe than the adult form but less severe than the infantile form. Life expectancy is usually normal.
  • Albers-Schonberg disease -- malignant recessive form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
  • Albright like syndrome: A rare disorder characterized by mental retardation, short stature and finger and toe abnormalities.
  • Albright's hereditary osteodystrophy: A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate.
  • Albuterol -- Teratogenic Agent: There is strong evidence to indicate that exposure to Albuterol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Alcock syndrome: A nerve disorder which causes pain in the pelvic, genital and perianal areas.
  • Alcohol -- Teratogenic Agent: There is strong evidence to indicate that exposure to Alcohol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Alkaptonuria: A rare inherited metabolic disease characterized by homogentisic aciduria, arthritis and ochronosis. Symptoms include darkening of urine, alkinization due to overproduction of homogentisic acid, arthritis in the large joints and black ochronotic pigmentation of cartilage and collagen tissue. However, many of these symptoms may not occur until middle age. The condition may also be caused by chronic phenol poisoning.
  • Allain Babin Demarquez syndrome: A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
  • Allan-Herndon-Dudley Syndrome: A very rare inherited disorder characterized primarilty by mental retardation.
  • Allen-Masters syndrome: Damage to muscle layers in the pelvis which allows the abnormally increased movement of the cervix. It often occurs after a traumatic surgical birth, induced abortion or excessive vaginal packing.
  • Allison atrophy: Wasting and loss of minerals in bones that are not used for periods of time. Astronauts have to ensure they do adequate exercise to prevent this condition.
  • Alopecia mental retardation syndrome: A rare syndrome characterized primarily by a lack of hair and mental retardation.
  • Alopecia-contractures-dwarfism-mental retardation: A rare syndrome characterized primarily by mental retardation, short stature, lack of hair and contractures.
  • Alpha thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia involves defects in one or more of the four genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Alpha thalassemia -- Hemoglobin H disease: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Hemoglobin H disease involves defects in three of the four genes required to make each ? protein chain. The main symptom is moderate to severe anemia.
  • Alpha thalassemia major: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia major is very rare involves defects in all of the four genes required to make each ? protein chain. The condition leads to infant death before or soon after birth.
  • Alpha-Mannosidosis: A rare condition which is characterized by a lysosomal storage defect.
  • Alpha-N-acetylgalactosaminidase deficiency, Type II: A very rare inherited metabolic disorder where deficiency of an enzyme (alpha-N-acetylgalactosaminidase) causes glycoplids to accumulate in body tissues and result in various symptoms. Type 2 occurs during the second or third decade of life and is milder than type I and doesn't involve neurological degeneration.
  • Alpha-ketoglutarate dehydrogenase deficiency: A metabolic disorder characterized by a deficiency of Alpha-ketoglutarate dehydrogenase which results in high levels of oxoglutaric acid in the urine as well as other severe symptoms.
  • Alpha-mannosidosis type II: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage. This form of the condition is less severe than type I (infantile form).
  • Alpha-mannosidosis, adult-onset form:
  • Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
  • Aluminium toxicity: High body levels of aluminium resulting in symptoms. Usually occurs in patients with renal impairment.
  • Alves Castelo dos Santos syndrome: A rare syndrome characterized by hair, eye, skin and spinal abnormalities.
  • 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.
  • Ameloblastoma: A congenital tumor of the pituitary gland. Also called craniopharyngioma, craniopharyngeal duct tumor, pituitary adamantinoma or Rathke's pouch tumor.
  • American mountain fever: A viral disease transmitted through the bite of ticks (Rocky Mountain wood tick and American dog tick) who are infected with the virus. Because the virus infects blood cells including erythrocytes, transmission can also occur through transfusion with infected blood but this is uncommon. Infection is most common in Canada and parts of western US. The incubation period usually lasts between 3 and 6 days but can be as long as a few weeks. The virus tends to cause to periods of fever each lasting for a few days.
  • Aminopterin -- Teratogenic Agent: There is strong evidence to indicate that exposure to ? during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Amish brittle hair syndrome: A rare inherited condition characterized by brittle hair, mental and physical impairment, decreased fertility and short stature.
  • Amitriptyline -- Teratogenic Agent: There is strong evidence to indicate that exposure to Amitriptyline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Amnion rupture sequence: A rare disorder where the amniotic sac is ruptured resulting in various abnormalities.
  • Amniotic Bands: A rare condition where abnormal fetal development occurs when bands of tissue encircle parts of the fetus and affect the growth of that portion. The band of tissue develops from the internal womb lining. The location of the band on the fetus determines the symptoms and the seriousness of the condition.
  • Amobarbital -- Teratogenic Agent: There is strong evidence to indicate that exposure to Amobarbital during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Amoxicillin -- Teratogenic Agent: There is strong evidence to indicate that exposure to Amoxicillin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Ampicillin -- Teratogenic Agent: There is strong evidence to indicate that exposure to Ampicillin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Amyloidosis AL: A disease involving the abnormal deposit of amyloid fibrils in virtually any part of the body - the heart, liver, kidney and peripheral and autonomic nerves are most commonly affected. The abnormal amyloid fibrils are produced abnormal plasma cells in the bone marrow. In some cases, the excess growth of abnormal plasma cells can result in a cancerous condition called myeloma resulting in bone pain and infections. A patient with myeloma may develop amyloidosis but it is rare for a patient with AL amyloidosis to go on to develop myeloma.
  • Amyloidosis beta2-microglobulinic: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. The type of amyloid protein involved in this type of amyloidosis is beta-2-microglobulin. The abnormal protein tends to be deposited in parts of the body such as joints, bones and carpal tunnel but can also be found in the gastrointestinal tract and other organs.
  • Amyoplasia: A rare condition characterized by congenital joint stiffness.
  • Amyoplasia congenital disruptive sequence: A rare genetic disorder characterized by congenital contractures of two or more different joints.
  • Anauxetic dysplasia: A rare disorder characterized by abnormal skeletal and spinal development.
  • Andersen-Tawil syndrome: A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium.
  • Androgen Insensitivity Syndrome: Females with male XY genetics but inability to respond to testosterone.
  • Andropause: A symptomatic decline in male androgens that may occur as men age.
  • André syndrome: A rare fatal syndrome characterized mainly by bone calcification abnormalities and facial anomalies. Death usually occurs within weeks of birth.
  • Anemia, Blackfan Diamond: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
  • Anencephaly: A birth defect where large parts of the brain is missing and the brainstem is malformed.
  • Aneurysmal bone cysts: A benign tumor-like lump in the bone. Most frequently occurs in the spine and longer bones of the body.
  • Angel shaped phalangoepiphyseal dysplasia: A rare genetic bone development disorder characterized mainly by an unusual angel-shaped ends of some bones (fingers and hips) which leads to early osteoarthritis.
  • Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
  • Angelman-Like Syndrome, X-linked: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
  • Angio-osteohypotrophic syndrome: A rare disorder characterized by malformation of the peripheral (usually veins) blood vessels and skeletal abnormalities. The malformed blood vessels cause localized soft tissue swellings and if veins in bones are affected, the bone may degenerate due to an insufficient blood supply. Usually the hands are affected.
  • Angioimmunoblastic T-cell lymphoma: A form of cancer which tends to be systemic in nature and thus cancer cells can be found in various parts of the body such as the lymph nodes, liver, spleen, skin and bone marrow.
  • Angiokeratoma -- mental retardation -- coarse face: A rare inherited genetic syndrome characterized by mental retardation, coarse facial features and capillary hemangiomas.
  • Angioneurotic Edema: Involves swelling of deep skin layers and fatty tissues under the skin as well as the mucous membrane. The condition involves recurrent swelling of tissues, abdominal pain and swelling of the voice box. It is often caused by an allergic reaction to drugs or food. It is also called Quincke's disease, giant urticaria, Quincke's edema or angioedema.
  • Angiosarcoma: A rare, aggressive malignant tumor of the blood vessel cells. Also called hemangiosarcoma, malignant hemangioendothelioma.
  • Aniridia -- absent patella: A rare genetic condition characterized by an abnormal or missing kneecap as well as the absence of the iris of the eye.
  • Aniridia -- renal agenesis -- psychomotor retardation: A rare genetic disorder characterized by missing irises of the eye, kidney developmental problems and mental retardation.
  • Ankle Osteoarthritis: A form of arthritis where the cartilage which cushions the bones in the ankle joint as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in all cases however, with some patients imply suffering joint stiffness. Primary osteoarthritis occurs as the person ages but results from repetitive use and/or high mechanical stress on the joint. It is not a direct result of the aging process. Secondary osteoarthritis is the result of such things as injury to the joint, joint infection, obesity, ligament damage, joint overuse, hormonal problems, pregnancy and various other conditions. Family history seem to play a factor in developing the condition.
  • Ankle bleeding: The ankle joint is a synovial hinge joint that connects the distal ends of the tibia and fibula.
  • Ankle blister: The ankle joint is a synovial hinge joint that connects the distal ends of the tibia and fibula.
  • Ankle blueness: A blue discolouration of the ankle
  • Ankle bruise: A haematoma that occurs at the ankle.
  • Ankle burning sensation: A burning sensation located in the ankle
  • Ankle clonus: a rhythmic contraction of the calf muscles following a sudden dorsiflexion of the foot, the leg being semiflexed
  • Ankle coldness: A cold sensation occurring at the ankle
  • Ankle defects short stature: A rare disorder characterized mainly by ankle defects and short stature
  • Ankle deformity: The ankle joint is a synovial hinge joint that connects the distal ends of the tibia and fibula.
  • Ankle infection: The ankle joint is a synovial hinge joint that connects the distal ends of the tibia and fibula.
  • Ankle inflammation: The ankle joint is a synovial hinge joint that connects the distal ends of the tibia and fibula.
  • Ankle itch: A sensation that causes a desire to scratch the skin of the ankle
  • Ankle lump: A palpable lesion located anatomically at or near the ankle joint
  • Ankle numbness: A loss of sensation located at or around the ankle region of the foot.
  • Ankle pain: Pain affecting the ankle joint
  • Ankle pain in children: Ankle pain in children is any discomfort or pain in the ankle of a child.
  • Ankle pain on both sides: Ankle pain on both sides refers to pain or discomfort in both ankles.
  • Ankle pain on one side: Ankle pain on one side is a condition in which there is discomfort or pain in one ankle.
  • Ankle paralysis: A loss of the motor and or sensory function of the ankle due to either a muscular or neural mechanism
  • Ankle paresthesia (tingling): A loss of sensation located at or around the ankle region of the foot.
  • Ankle paresthesia of both sides: Ankle paresthesia of both sides is a condition in which there is numbness, tingling or other abnormal sensations in both ankles.
  • Ankle paresthesia of one side: Ankle paresthesia of one side is a condition in which there is numbness, tingling or other abnormal sensations in one ankle.
  • Ankle rash: An eruption on the skin of the ankle.
  • Ankle redness: The ankle joint is a synovial hinge joint that connects the distal ends of the tibia and fibula. Most traumatic events involving the ankle result in ankle sprains.
  • Ankle spasm: A sudden involuntary contraction of the muscles surrounding the ankle joint.
  • Ankle sprain: Damage to the ankle ligaments.
  • Ankle stiffness: The ankle joint is a synovial hinge joint that connects the distal ends of the tibia and fibula. Most traumatic events involving the ankle result in ankle sprains.
  • Ankle swelling: Ankle swelling often from injury or fluid retention.
  • Ankle symptoms: Symptoms affecting the ankle
  • Ankle tingling/paresthesias: A tingling sensation located on the ankle.
  • Ankle ulcer: The ankle joint is a synovial hinge joint that connects the distal ends of the tibia and fibula.
  • Ankle weakness: A decrease in the usual strength of the movements of the ankle
  • Ankylosing Spondylitis: A form of chronic inflammation of the spine which may also affect joints in the shoulder, hip, neck, ribs and jaw. May result in loss of mobility. Also called Marie-Strumpell disease.
  • Ankylosing spondylarthritis: Inflammation of one or more spine joints. The spine becomes progressively painful and stiff and the spine joints may eventually fuse and cause disability. The condition may vary from mild to severe. Inflammation can affect other joints and tissues.
  • Ankylosis: Stiffness or fusion of a joint leading to loss of mobility.
  • Ankylosis -- facial anomalies -- pulmonary hypoplasia syndrome: A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs.
  • Anophthalmia -- cleft palate -- micrognathia: A rare syndrome characterized mainly by absent eyes, cleft palate and a small jaw.
  • Anophthalmia -- hand and foot defects -- mental retardation: A rare syndrome characterized mainly by mental retardation, hand and foot defects and absent eyes.
  • Anophthalmia -- hypothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
  • Anophthalmia -- hypyothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
  • Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
  • Anophthalmia -- short stature -- obesity: A very rare syndrome characterized by absent eyes, short stature and obesity.
  • Anophthalmia plus syndrome: An extremely rare disorder characterized by absent or very small eyes, underdeveloped ears and other facial anomalies.
  • Anophthalmos with limb anomalies: A rare disorder characterized by absent eyes
  • Anorexia Nervosa: A disorder where a distorted sense of body image leads to self-starvation to the point of death in some cases.
  • Anotia -- facial palsy -- cardiac defect: A rare syndrome characterized mainly missing ears, facial weakness and congenital heart defects.
  • Ansell-Bywaters-Elderking syndrome: A rare familial syndrome characterized mainly by mental retardation, rash, eye inflammation and joint disease.
  • Anterior fontanelle bulging: bulging of the anterior fontanels.
  • Anterior knee pain related to sports: The knee joint is the largest joint in the body, consisting of 4 bones and an extensive network of ligaments and muscles. Injuries to the knee joint are amongst the most common in sporting activities.
  • Antihypertensive drug allergy: Taking antihypertensive drugs (blood pressure-lowering drugs) can cause an allergic response in some people however this is considered rare. It involves the body's immune system overreacting to the drug. The type and severity of symptoms can vary considerable though skin symptoms are the most common allergic response to drugs.
  • Antithyroid arthritis syndrome: Arthritis caused by using antithyroid drugs to treat hyperthyroidism.
  • 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.
  • Aortic arch anomaly with peculiar facies and mental retardation: A very rare syndrome characterized by mental retardation, characteristic facial anomalies and abnormal position of the aorta.
  • Aortic dilatation- joint hypermobility- arterial tortuosity: A rare syndrome characterized by the dilation of the aortic root, hyperextensible joints and varicose veins
  • Apelt-Gerkin-Lenz Syndrome: A rare inherited syndrome characterized by clefting of the lip and palate as well as the absence of variable portions of all of the limbs.
  • Apert syndrome: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Aphalangia -- syndactyly -- microcephaly: A very rare syndrome characterized by the absence of one or more bones of the fingers and toes, a small head and fusion of fingers.
  • Aphalangy -- hemivertebrae -- urogenital-intestinal dysgenesis: A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs.
  • Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails: A rare syndrome characterized by the underdevelopment or absence of the pelvis, thigh bone, shin bone and ulna (forearm bone) as well as digital and nail abnormalities.
  • Aplastic anemia: A blood disorder where the bone marrow produces insufficient new blood cells.
  • Appendiceal tumor: A tumor of the appendix. The condition is often misdiagnosed as acute appendicitis. The cancer usually metastasizes from other sites and rarely starts in the appendix.
  • Appendix cancer: Cancer of the appendix. The cancer usually metastasizes from other sites and rarely starts in the appendix.
  • Apricot seed poisoning: Apricot seeds contain a chemical called amygdalin which breaks down into cyanide in the human body. The toxic chemicals are not released if the pit remains intact and therefore poisoning usually occurs if the seeds are crushed and eaten. Accidental ingestion is very unusual. Most parts of the apricot plant contain the toxic chemical with the highest concentration in young leaves. Different species of apricots have different levels of toxic chemical. Severe symptoms or even death can occur if children consume more than ten kernels or adults consume more than forty kernels. Theories exist that apricot kernels may help cancer sufferers but there has been no scientific studies that have proven this.
  • Arachnodactyly: Hands and fingers, and feet and toes, are abnormally long and slender.
  • Arachnodactyly -- Intellectual Deficit -- Dysmorphism: A rare condition characterized by long thin digits, reduced intelligence characteristic facial appearance.
  • Arachnodactyly -- ataxia -- cataract -- aminoaciduria -- mental retardation: A rare syndrome characterized mainly by congenital cataracts, ataxia, mental retardation, abnormal amino acid metabolism and long, thin fingers.
  • Arachnodactyly -- mental retardation -- dysmorphism: A very rare syndrome characterized by mental retardation, unusual facial features and long, thin fingers and toes.
  • Arachnodactyly in children: Arachnodactyly in children refers to a child who has unusually long and thin fingers that are the result of a congenital syndrome.
  • Arakawa's syndrome 2: An inherited metabolic disorder where an enzyme deficiency (methionine synthase) causes mental and physical retardation, blood disorders, degeneration of brain tissue and various other symptoms.
  • Arbovirosis: An infectious disease caused by an arbovirus. The virus is transmitted by arthropods such as insects and ticks. Examples of arboviruses include Yellow Fever, Japanese encephalitis and tick-borne encephalitis. The symptoms may vary depending on the type of virus involved. The infection can lead to life-threatening brain inflammation.
  • Arena syndrome: A rare disorder characterized by mental retardation, spastic paraplegia and iron deposits in part of the brain that controls movement (basal ganglia).
  • Arima syndrome: A rare disorder characterized mainly by eye and brain abnormalities.
  • Arm deformity: Malformation or distortion of the arm.
  • Arm fracture: Arm fracture is a break in any of the bones in the arm.
  • Armendares syndrome: A rare syndrome characterized mainly by retarded growth and facial, skull and eye abnormalities.
  • Aromatase deficiency: A congenital deficiency of the enzyme called aromatase which is needed to convert androgens to estrogens.
  • Arterial occlusive disease, progressive -- hypertension -- heart defects -- bone fragility -- brachysyndactyly: A rare syndrome characterized by narrowing or blockage of a number of arteries (in the kidneys, abdomen, brain and heart) as well as fragile bones, heart defects and finger abnormalities. Fractures and high blood pressure often start during the first years of life.
  • Arterial tortuosity syndrome: A rare disorder which affects the connective tissue that makes up blood vessels resulting in various arterial abnormalities. Connective tissue abnormalities also affect the skin and joints.
  • Arthralgia: pain in the joints
  • Arthralgia -- purpura -- weakness syndrome: A rare autoimmune disorder characterized mainly by weakness, joint pain, reddish or purplish skin discolorations and a blood abnormality where cryoglobulins in the blood precipitate at low temperatures.
  • Arthralgia in lower limb: unilateral arthralgia
  • Arthralgia of both lower limbs: Bilateral arthralgia
  • Arthralgia similar to that in Inflammatory bowel disease: pain in the joints similar to that of Crohn's disease and ulcerative colitis
  • Arthralgia similar to that in rheumatoid arthritis: Pain in the joints similar to that of rheumatoid arthritis.
  • Arthritic signs: joint stiffness is one of the earliest sign of arthritis
  • Arthritis: A condition which is characterized by the inflammation of a joint
  • Arthritis -- short stature -- deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
  • Arthritis in children:
  • Arthritis in multiple joints as in case of rheumatoid arthritis:
  • Arthritis in multiple joints in children:
  • Arthritis in single joint in children:
  • Arthritis, Gouty: Joint pain and inflammation (arthritis) caused by gout (buildup of urate crystals). The big toe is most commonly affected but other joints may also be affected e.g. foot, ankle, elbow, wrist, knee and fingers. Usually only one joint is affected at a time. The condition is most often seen in older men.
  • Arthritis-like conditions: Medical conditions highly related to or similar to arthritis.
  • Arthritis-like symptoms: A condition which is characterized by symptoms which mimic that of arthritis
  • Arthritis-related enthesitis: Inflammation of the entheses due to arthritis. The enthuses is the site at which the tendon or ligament attaches to the bone.
  • Arthrogryposis: A condition which is characterized by the persistent flexure of a joint
  • Arthrogryposis -- ophthalmoplegia -- retinopathy: A very rare syndrome characterized by congenital contractures of the hands and feet as well as eye problems.
  • Arthrogryposis -- renal dysfunction -- cholestasis syndrome: A very rare syndrome characterized by joint contractures, kidney dysfunction and liver problems.
  • Arthrogryposis -- severe scoliosis: A rare disorder characterized by severe scoliosis and permanent flexion of muscles in the ends of the limbs. Other variable features may alsobe present.
  • 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 IUGR thoracic dystrophy: A very rare syndrome characterized by congenital joint contractures, intrauterine growth retardation (IUGR) and ribcage abnormalities.
  • 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.
  • Arthrogryposis in children:
  • Arthrogryposis multiplex congenita -- pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
  • Arthrogryposis multiplex congenita neurogenic type: A rare non-progressive syndrome characterized by congenital contractures that originates from a nerve problem (spinal motor neuron depletion).
  • Arthrogryposis multiplex congenita type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
  • Arthrogryposis multiplex congenita, distal, X-linked: A rare condition characterized by the presence of contractures at birth as well as various other anomalies. The condition is X-linked.
  • Arthrogryposis multiplex with deafness, inguinal hernias, and early death: A rare syndrome characterized multiple joint contractures throughout the body, deafness, inguinal hernias and death usually within months of birth.
  • Arthrogryposis, congenital -- myopathic seizures: A rare syndrome characterized by mental retardation and muscle problems.
  • Arthrogryposis, distal, type 2A: A form of distal arthrogryposis (joint contractures in ends of limbs) that involves additional symptoms such as facial and spinal anomalies.
  • Arthrogryposis, distal, type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
  • Arthrogryposis, distal, type 2E: A rare syndrome characterized by contractures of the fingers and jaw.
  • Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies: A very rare syndrome characterized mainly by mental retardation, permanent flexion of fingers, low pituitary hormone level and facial anomalies.
  • Arthrogryposis-like disorder: A rare disorder characterized by joint contractures of the knees and ankles resulting in wasting or overgrowth of nearby muscles.
  • Arthrogryposis-like hand anomaly -- sensorineural deafness: A rare disorder characterized by hand contractures and deafness.
  • Arthropathies: disorders of the joints
  • Arthropathies similar to that in inflammatory bowel disease: disorders of the joints
  • Arthropathy, Neurogenic: Joint destruction caused by damage to the nervous system which prevents the patient feeling sensations in the joint. Due to the nerve damage, pain and damage to the joint often goes unnoticed as the joint deteriorates even further. The knee and ankle are the most common joints affected. The condition is usually caused by an underlying diseases which affects the nerves e.g. diabetic neuropathy, syringomyelia, spinal cord injury and pernicious anemia.
  • Arthropathy, progressive pseudorheumatoid, of childhood: A form of progressive rheumatoid arthritis that affects children.
  • Aseptic osteitis (generic term): A non-infectious inflammation of the bone. Any bone may be affected
  • Ashley syndrome: A rare syndrome characterized mainly by an unusual facial appearance and muscle and skeletal abnormalities.
  • Asian Dendorlimus pini caterpillar poisoning: A chronic illness caused by contact with certain a poisonous caterpillar called Dendorlimus pini. Contact with the cocoon can also cause symptoms. These caterpillars can be found in Asia, north Africa and eastern Europe.
  • Aspartylglucosaminidase deficiency: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglycosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Asphyxiating Thoracic Dystrophy: A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
  • Asphyxiating Thoracic Dystrophy 2: Asphyxiating thoracic dystrophy is rare syndrome characterized mainly by abnormal development of the ribcage The ribcage is restricted to the point where breathing is impaired and death during infancy is a common occurrence. Type 2 is linked to a defect on chromosome 15q13.
  • Asphyxiating Thoracic Dystrophy 3: Asphyxiating thoracic dystrophy is rare syndrome characterized mainly by abnormal development of the ribcage The ribcage is restricted to the point where breathing is impaired and death during infancy is a common occurrence. Type 3 is linked to a defect on chromosome 11q13.5.
  • Astley-Kendall syndrome: A very rare syndrome involving abnormal skeletal development and resulting in short limbs, fragile bones and cartilage abnormalities. The condition generally results in stillbirth or death during early infancy.
  • Asymmetric limbs in children: Asymmetric limbs in children refers to a condition in which the arms and/or legs are not evenly formed or shaped in a child.
  • Asymmetric short stature syndrome: A rare disorder characterized mainly by short stature, unequal leg lengths and facial anomalies.
  • Asymmetrical chest expansion: decreased movement of the chest wall
  • Asymmetrical face: Asymmetrical face occurs when the two halves of the face are not symmetrical.
  • Ataxia -- diabetes -- goiter -- gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Atelosteogenesis Type III: A very rare inherited skeletal ossification disorder. Unlike types I and II, survival past infancy is possible in type III.
  • Atelosteogenesis, type 1: A rare genetic disorder characterized by bone formation abnormalities, short stature and early death.
  • Atelosteogenesis, type 2: A very rare inherited skeletal disorder involving the bone and cartilage and resulting in various bone abnormalities.
  • Athabaskan severe combined immunodeficiency: A severe immunodeficiency disorder found in Navajo and Apache populations.
  • Atkin-Flatiz syndrome: A rare, X-linked syndrome characterized mainly by mental retardation and facial anomalies.
  • Atrial myxoma, familial: An atrial myxoma benign tumor that develops in the wall that separates the two upper chambers of the heart. The familial form of the condition also involves tumors in other parts of the body such as the skin, both heart atria or the heart ventricles.
  • Atrichia -- mental and growth delay: A rare syndrome characterized mainly by mental retardation, growth delay and the absence of hair.
  • Atropine -- Teratogenic Agent: There is strong evidence to indicate that exposure to Atropine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Audible crunching sound: crunching sound on movement
  • Aughton syndrome: A very rare syndrome characterized primarily by small eyes, cleft palate, mental retardation and dextrocardia (heart located on right side of chest instead of left).
  • Aural atresia -- multiple congenital anomalies -- mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
  • Auralcephalosyndactyly: A very rare syndrome characterized by ear abnormalities, premature fusion of skull bones and syndactyly (fusion of digits).
  • Aureomycin -- Teratogenic Agent: There is evidence to indicate that exposure to Aureomycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Auriculo-condylar syndrome: A rare syndrome characterized by variable ear and jaw abnormalities.
  • Autoimmune Endometriosis: An endometriosis that is caused by an autoimmune reaction
  • Autoimmune Hemophilia: Hemophilia caused by an autoimmune reaction
  • Autoimmune Hepatitis: Liver inflammation caused due to autoimmune processes where the body's immune system attacks the liver.
  • Autoimmune Lymphoproliferative Syndrome: An inherited autoimmune condition characterized by proliferation of lymphocytes and autoimmunity against the body's own blood cells resulting in premature death of certain blood cells.
  • Autoimmune Vasculitis: A inflammation of the blood vessels caused by an autoimmune reaction
  • Autoimmune oophoritis: An autoimmune condition where the body's own immune system attacks the ovaries and causes them to become inflamed. It can lead to ovarian function stopping prematurely.
  • Autoimmune thyroid disease associated Celiac Disease: Patients with autoimmune thyroid disease are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Autosomal Recessive Polycystic Kidney Disease: Severe form of PKD, a genetic kidney disease.
  • Autosomal Recessive Tetra-Amelia: A rare disorder characterized by the absence of all four extremities as well as skeletal, nervous system, craniofacial and other abnormalities. The condition is causes death before or soon after birth.
  • Avascular necrosis: Bone death from lack of circulation.
  • Avascular necrosis of femoral head, familial form: A familial hip joint disorder where bone growth abnormalities caused by an interrupted blood supply to the head of the femoral bone results in it's degeneration and deformity. When the body creates a new blood supply, new healthy bone can be formed.
  • Avitaminosis: A group of diseases caused by the deficiency of one or more vitamins e.g. Beriberi (thiamine deficiency), rickets (Vitamin D deficiency), pellagra (niacin deficiency), pernicious anemia (Vitamin B12), bleeding (vitamin K deficiency) and night blindness (avitaminosis A). Symptoms depend on the type and degree of vitamin deficiency. Lack of various vitamins can affect just about every part of the body including the nervous system.
  • Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities: A rare syndrome characterized mainly by skeletal abnormalities, excess fluid inside the skull and eye anomalies.
  • Axenfeld-Rieger syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities. The range of symptoms that can occur is somewhat variable.
  • Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
  • Axial osteosclerosis: A rare bone abnormality involving patches of increased bone density which tend to occur in the spine, pelvis and the ball part of the hip joint.
  • Azathioprine -- Teratogenic Agent: There is strong evidence to indicate that exposure to Azathioprine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • BBB syndrome, X-linked: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner. Females with type I tend to have few if any symptoms - often the only symptom is wide-set eyes.
  • BIDS syndrome: A rare inherited condition characterized by brittle hair (B), mental and physical impairment (I), decreased fertility (D) and short stature (S).
  • BOD syndrome: A very rare syndrome characterized primarily by small nails, digital abnormalities (mainly of the fifth finger and toe) and various facial anomalies.
  • Baber's syndrome: A very rare syndrome characterized by the association of congenital liver cirrhosis with Fanconi syndrome.
  • Back tumour: The presence of tumour growth in the vertebra, whether due to primary malignancies e.g. leukaemic or myeloma infiltration of the bone marrow, or due to secondary metastases from another site e.g. lung or breast.
  • Bacterial meningitis: Bacterial meningitis is a form of meningitis caused by bacteria that normally lives in the mouth and throat. When the immune system is unable to supress this bacteria, it travels to the cerebrospinal spinal fluid in the brain. From there it affects the membranes surrounding the brain.
  • Badly damaged cartilage: can be due to wear and tear or any disease process
  • Bagatelle-Cassidy syndrome: An extremely rare syndrome characterized by a large head, widely spaced eyes, hearing loss, short limbs and developmental delay.
  • Baker-Vinters syndrome: A very rare syndrome characterized by premature fusion of skull bones, hydrocephalus and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles.
  • Ballard syndrome: A rare condition characterized by enlarged liver and spleen and fractures that occur in areas of weakened bone.
  • Baller-Gerold Syndrome: A rare syndrome characterized by premature fusion of skull bones and radial defects. Variable other abnormalities may be present.
  • Bamboo hair syndrome: A rare inherited condition characterized by abnormally formed hair shafts and a skin condition involving scaling and redness of the skin. Patients are also predisposed to developing allergic conditions such as asthma and eczema and food allergies. The severity of the condition can vary with some infants having a poor prognosis due to severe allergies, infections and skin problems whereas others have milder symptoms and fewer allergic manifestations.
  • Bamforth syndrome: A rare syndrome characterized mainly by the association of an abnormal opening in the roof of the mouth and reduced thyroid functioning.
  • Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Bannayan-Zonana syndrome: A rare genetic disorder characterized by macrocephaly, intestinal polyposis, pigmentation of penis and benign tumor-like growths.
  • Baraitser burn fixen syndrome: A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face.
  • Baraitser-Rodeck-Garner syndrome: A very rare syndrome characterized primarily by mental retardation, premature fusion of skull bones, kidney anomalies, seizures and facial anomalies.
  • Baraitser-Winter syndrome: A rare syndrome characterized by a structural eye defect, droopy eyelids and mental retardation.
  • Bardet-Biedl Syndrome: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities.
  • Bardet-Biedl syndrome, type 1: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13.
  • Bardet-Biedl syndrome, type 10: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q.
  • Bardet-Biedl syndrome, type 11: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1.
  • Bardet-Biedl syndrome, type 12: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27.
  • Bardet-Biedl syndrome, type 2: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21.
  • Bardet-Biedl syndrome, type 3: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13.
  • Bardet-Biedl syndrome, type 4: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3.
  • Bardet-Biedl syndrome, type 5: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31.
  • Bardet-Biedl syndrome, type 6: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12.
  • Bardet-Biedl syndrome, type 7: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27.
  • Bardet-Biedl syndrome, type 8: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11.
  • Bardet-Biedl syndrome, type 9: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14.
  • Barmah Forest virus: Mosquito-borne virus in parts of Australia
  • Barnicoat-Baraitser syndrome: A rare syndrome characterized mainly by extra digits and excessive growth resulting in an increased birth weight and size.
  • Barrel chest: increased AP diameter of the lung.
  • Barrel chest in children: Barrel chest in children is a condition in which a child's chest is abnormally barrel-shaped.
  • Barrow-Fitzsimmons Syndrome: A rare (only one reported case) inherited condition characterized by short limbs, an unusual facial appearance and congenital heart disease.
  • Bartenwerfer syndrome: A rare disorder characterized by dwarfism and facial and skeletal abnormalities. The disorder is a variant of Morquio disease.
  • Bartonella infections: Infection with bacteria from the Bartonella genus of bacteria. Specific bacteria from within this group are Bartonella bacilliforms (Oroya fever), Bartonella Heneslae (Cat-scratch disease). Other conditions caused by this bacteria are endocarditis, bacteremia and angiomatosis. Symptoms vary depending on the type of bacteria involved and the severity of the infection - immunocompromised patients face greater risk of severe infection.
  • Bartonellosis: An infection by Bartonella bacilliformis which is transmitted through sandfly bites. Symptoms include fever, severe anemia, bone pain and skin lesions. Also called Carrion's disease, Oroya fever or verruga peruana.
  • Bartonellosis due to Bartonella quintana infection: A disease caused by infection with Bartonella quintana which are transmitted by the body louse. It causes trench fever but may also result in septicemia and endocarditis in patients with a weakened immune system.
  • Bartsocas Papa syndrome: A rare condition characterized by webbing of skin as well as various other physical and mental abnormalities.
  • Bartter Syndrome: A rare genetic disorder of kidney metabolism characterized by reduced blood acidity and low potassium levels.
  • Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.

Conditions listing medical symptoms: Skeletal symptoms:

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

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Conditions listing medical complications: Skeletal symptoms:

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

 

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