Assessment
Questionnaire

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

Glossary for Bone symptoms

Medical terms related to Bone 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 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.
  • 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.
  • 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.
  • 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,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.
  • 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.
  • 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 rib number: Abnormal rib number is more ribs or fewer ribs than the normal amount.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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 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 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 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 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 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 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 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.
  • 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 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 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.
  • 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.
  • 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 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'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.
  • 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-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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Anophthalmia -- cleft palate -- micrognathia: A rare syndrome characterized mainly by absent eyes, cleft palate and a small jaw.
  • 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 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 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.
  • 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.
  • 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.
  • 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 -- 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.
  • 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.
  • 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 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
  • 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-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 -- 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 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, 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.
  • 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.
  • 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.
  • Aspergillosis: Infection with a fungus called Aspergillus.
  • 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 short stature syndrome: A rare disorder characterized mainly by short stature, unequal leg lengths and facial anomalies.
  • 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 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.
  • 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.
  • 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 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 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 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.
  • 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.
  • 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.
  • Badly damaged cartilage: can be due to wear and tear or any disease process
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Bartters syndrome, antenatal , type 2: A rare genetic kidney disorder that causes hypokalemia. A defect in the ROMK gene impairs the ATP-regulated potassium channel functioning and leads to electrolyte imbalance.
  • Basal ganglia disease, biotin-responsive: A neurological disease that affects the part of the brain called the basal ganglia. The disease responds well to biotin administration but relapses within a month if the biotin is stopped. If the condition is diagnosed late or there are recurring episodes, the patient may suffer ongoing symptoms such as paraparesis, mild mental retardation or dystonia.
  • Basilar impression primary: A congenital bone abnormality where the skull and vertebrae meet which can compress some of the brain structures and result in neurological abnormalities. The defect is often associated with other vertebral abnormalities. In severe cases, the cerebrospinal fluid flow may be obstructed which can cause fluid to build up inside the skull (hydrocephalus).
  • Basilar skull fracture: is a fracture which involves the base of the skull. It is very rare and occurs in 4% of head injury cases
  • Battaglia Neri syndrome: A very rare syndrome characterized by mental retardation, small head, epilepsy, coarse facial features and skeletal anomalies. Only two reported cases of this syndrome.
  • Bd syndrome: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
  • Beare-Stevenson cutis gyrata syndrome: A rare genetic disorder involving skin and skull abnormalities due to the premature fusion of skull bones.
  • Beare-Stevenson cutis gyrate syndrome:
  • Becker nevus syndrome: A rare disorder characterized by a pigmented hairy skin patch associated with skin, muscle or bone defects on the same side of the body as the skin lesion.
  • Beckwith-Wiedemann Syndrome: An inherited disorder marked by gigantism, exomphalos and macroglossia. Also called EMG syndrome and exophthalmos-macroglossia-gigantism syndrome.
  • Bed sores: An ulceration due to an arterial occlusion or prolonged pressure
  • Beemer-Ertbruggen syndrome: A rare lethal syndrome characterized primarily by hydrocephalus, heart malformations, and increased bone density. Only a couple of cases have been reported.
  • Beemer-Langer syndrome: A very rare inherited condition characterized by a number of congenital abnormalities and death generally occurs during early infancy.
  • Behcet's syndrome: Recurring inflammation of small blood vessels affecting various areas.
  • Behind knee itch: A sensation thatcauses a desire to scratch the skin behind the knee
  • Behind knee lump: A palpable lesion located anatomically behind the knee
  • Behind knee pain: A feeling of distress and agonycaused by the stimulation of pain nerve endings behind the knee
  • Behind knee rash: An eruption on the skin behind the knee.
  • Behind knee swelling: Swelling behind the knee
  • Bellini-Chiumello-Rinoldi syndrome: A very rare syndrome characterized primarily by mental retardation, short stature and unusual shaped ends of long bones.
  • Benadryl -- Teratogenic Agent: There is evidence to indicate that exposure to Benadryl 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.
  • Benign jaw growths: Benign jaw growths are tumors or masses that are not cancerous.
  • Benign jaw growths in children: Benign jaw growths in children include non-cancerous lumps or masses that grow in the jaw of a child.
  • Bentham-Driessen-Hanveld syndrome: A rare syndrome characterized mainly by the association of undescended testes, long thin fingers and mental retardation.
  • Berlin Breakage syndrome: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. The features of this condition are virtually indistinguishable from the Nigmegen Breakage syndrome.
  • Bessel-Hagen disease: A dominantly inherited disorder characterized by growth of multiple tumors made up of cartilage on the bones.
  • Beta Thalassemia intermedia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. There are two subtypes of the disorder (alpha and beta) depending on what portion of the hemoglobin is abnormally synthesized. Beta Thalassemia intermedia involves defects in both of the two genes required to make each ? protein chain. The condition causes varying degrees of moderate anemia.
  • Beta thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Beta thalassemia involves defects in one or more of the two 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.
  • Beta-ureidopropionase deficiency: A metabolic disorder where the deficiency of an enzyme (Beta-ureidopropionase) results mainly in neurological abnormalities such as mental retardation. The symptoms are variable however.
  • Beveridge syndrome: A rare syndrome characterized by a large head, skeletal and visceral problems and patches of reduced skin pigmentation.
  • Biaxin -- Teratogenic Agent: There is evidence to indicate that exposure to Biaxin (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.
  • Bilateral parotid gland enlargement: enlargement of the parotid glands .
  • Bile acid synthesis defect, congenital, 2: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.
  • Bile acid synthesis defect, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
  • Bile acid synthesis defects: A defect which prevents the body from making bile acid which results in progressive liver disease.
  • Bile acid synthesis defects, congenital, 1: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (3-beta-hydroxy-delta-5-C27-steroid oxidoreductase) needed to make bile acid.
  • Bile acid synthesis defects, congenital, 2: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.
  • Bile acid synthesis defects, congenital, 3: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect involved a deficiency of 7-alpha-hydroxylase which is an enzyme needed to prevent the accumulation of 27-hydroxycholesterol which is toxic to the liver.
  • Bile acid synthesis defects, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
  • Biliary cirrhosis: Biliary cirrhosis is a condition where the bile ducts are unable to transport bile effectively due to blockage, inflammation, scarring or some other damage to the bile ducts. The condition may result from such things as congenital defect of the bile ducts (e.g. biliary atresia), cystic fibrosis, gallstones or a variety of other secondary conditions. The cause of primary biliary cirrhosis is not fully understood.
  • Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
  • Bird cherry seed poisoning: Wild cherry seeds contain a chemical called amygdalin which breaks down into cyanide in the human body. The toxic chemicals are not released if the seed remains intact and therefore poisoning usually occurs if the seeds are crushed and eaten. Accidental ingestion is very unusual.
  • Bird flu (avian influenza): Bird flu refers to influenza A invection. Influenza A is a viral respiratory infection that can usually occurs in birds (especially poultry) but can be transmitted to humans and cause serious illness. The virus is contagious and can cause severe illness especially in patients who are very young or old or have some other medical condition as well. The severity of symptoms can vary but usually involves respiratory and constitutional (e.g. headache, aching muscles) symptoms. The influenza virus can mutate and produce different strains though the symptoms are the same. This frequent mutation means that people need regular vaccinations to ensure they are protected against new strains as they arise.
  • Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Bird-headed dwarfism, Montreal type: A rare condition characterized by dwarfism and a characteristic beak-shaped nose.
  • Bitter almond seed poisoning: Bitter almond seeds contain a chemical called amygdalin which breaks down into cyanide in the human body. Accidental ingestion is very unusual. Bitter almond plants grow mainly in Northern America. Various processes can be used to leach the toxic chemical out of the bitter almonds.
  • Bixler-Christian-Gorlin syndrome: A very rare syndrome characterized primarily by widely spaced eyes, small ears and a clefts in the lip, palate and nose.
  • Blast crisis: The final phase of chronic myeloid leukemia which has a high mortality rate. Myeloid leukemia is a form of cancer where the bone marrow makes too many myeloid cells (granulocytes and their precursors) in the bone marrow which accumulates in the blood and eventually invades various parts of the body. The three phases of the condition are the chronic phase, aggressive phase and finally the blast crisis. A blast crisis is occurs when over 30% of the cells in the blood or bone marrow are immature blood cells (blast cells). Patients in the final stage of leukemia are more prone to relapses following treatment.
  • Blastomycosis: A fungal infection caused by Blastomyces dermatitidis and resulting in lung, skin, bone and genitourinary involvement.
  • Blepharo facio skeletal syndrome: A very rare syndrome characterized mainly by eyelid, facial and skeletal abnormalities.
  • Blepharophimosis -- nasal groove -- growth delay: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
  • Blepharophimosis -- nasal groove -- growth retardation: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
  • Blepharophimosis -- ptosis -- esotropia -- syndactyly -- short stature: A rare disorder characterized by eye anomalies, webbed fingers and short stature.
  • Blepharophimosis ptosis esotropia syndactyly short: A rare disorder characterized by eye anomalies, webbed fingers and short stature.
  • Blepharophimosis telecanthus microstomia: A rare syndrome characterized by a flat face, small mouth and ear anomaly as well as a range of other abnormalities.
  • Blepharophimosis with ptosis, syndactyly, and short stature: A very rare genetic condition characterized by the association of droopy eyelids, webbed digits and short stature.
  • Blepharophimosis, large cylindrical nose and severe intrauterine growth retardation: A rare syndrome characterized by eye and nose anomalies as well as severely retarded fetal growth.
  • Blethen-Wenick-Hawkins syndrome: A rare syndrome characterized mainly by short stature, skeletal abnormalities and reduced pituitary gland functioning.
  • Blood cancer: Malignancy of one or several of the different types of cells in the blood
  • Blue Diaper Syndrome: A rare metabolic disorder characterized by vision problems, bluish urine, fever and digestive anomalies.
  • Body symptoms: Symptoms affecting the entire body features.
  • Bone and cartilage tumors: Any tumors affecting the bones or cartilage, including both cancerous and benign tumors.
  • Bone bruise: Injury to the underlying tissues in which the skin is not broken often characterised by ruptured skin vessels and discoloration.
  • Bone burning sensation: Abnormal sensations felt at the joints.
  • Bone changes: Changes to the bones as a symptom
  • Bone conditions: Conditions that affect the bones
  • Bone crepitation: Bone crepitation is a palpable vibration or an audible crunching sound that results when one bone grates or rubs against another.
  • Bone dysplasia -- corpus callosum agenesis: A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities.
  • Bone dysplasia Azouz type: A rare disorder involving abnormal bone development characterized by a flattened spine and abnormal benign cartilage growths whitin bones which affects it's growth and strength.
  • Bone dysplasia Moore type: A rare disorder characterized by abnormally bowed long bones. The bowed bones may be symmetrical or asymmetrical. The condition has only been observed in two siblings and is believed to be a previously undescribed disorder.
  • Bone dysplasia with medullary fibrosarcoma: A rare inherited bone disorder characterized by aggressive bone tumors and defective bone development. The tumors metastasized readily.
  • Bone ends rubbing together: conditions where the joint space is reduced
  • Bone fragility, craniosynostosis, proptosis, hydrocephalus: A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull.
  • Bone growth suppression: A condition which is characterized by the suppression of bone growth in an individual
  • Bone infection: Inflammation of the bone also known as osteomyelitis.
  • Bone inflammation: Inflammation of the bone also known as osteomyelitis.
  • Bone loss: A condition which is characterized by the loss of the amount of bone in ones body particular its density
  • Bone loss in children: Bone loss in children is the condition in which bone density is lost and bones are thinned in a child.
  • Bone numbness: Abnormal sensations felt at the joints.
  • Bone pain: Pain affecting the bones
  • Bone redness: Inflammation of the joint spaces.
  • Bone sensitivity: Abnormal sensations felt at the joints.
  • Bone swelling: Inflammation of the joint spaces leading to swelling and effusion.
  • Bone swelling in children (15 -- 20 years old): Bone swelling in children (15 -- 20 years old) occurs when there is swelling of a bone in a child who is between 15 and 20 years old.
  • Bone swelling in children (5 -- 15 years old): Bone swelling in children (5 -- 15 years old) is a condition in which there is swelling of a bone in a child who is 5-15 years old.
  • Bone swelling in children (birth -- 5 years old): Bone swelling in children (birth -- 5 years old) refers to swelling of a bone in an infant, toddler or preschooler.
  • Bone symptoms: Symptoms affecting the body's bones
  • Bone thinning: A condition which is characterized by the thinning of the bones of ones body
  • Bone tingling sensation: Abnormal sensations felt at the joints.
  • Bonneman-Meinecke-Reich syndrome: A very rare syndrome characterized by calcium deposits in the brain tissue, deficiency of growth hormones and degeneration of the part of the eye called the retina.
  • Bonnemann-Meinecke-Reich syndrome: A rare disorder characterized mainly by growth problems, vision problems and brain disease.
  • Bony abnormalities: lesions of the bone
  • Bony crepitation: the sensation noted during palpation when the fragments of a fractured bone are rubbed together
  • Bony foot mass in children: Bony foot mass in children refers to a hard, bony lump or swelling in a child.
  • Bony lump: Swelling due to inflammation of the joints.
  • Boomerang dysplasia: A rare lethal disorder characterized by bone abnormalities (lack of bone ossification and missing bones) and a characteristic face.
  • Borjeson Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
  • Borjeson-Forssman-Lehmann Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
  • Bosviel syndrome: A rare condition where a blood blister on the uvula ruptures. It often occurs as a complication of tracheal intubation.
  • Bowing of legs, anterior, with dwarfism: A very rare syndrome characterized primarily by dwarfism and bowed lower leg bones. Only one or two reported cases of the condition.
  • Bowing, congenital, short bones: A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones.
  • Boyd-Stearns syndrome: A rare syndrome associated with various metabolic disorders such as glycosuria, acidosis, albuminuria and hypochloremia. Symptoms include rickets during infancy, short stature, low blood phosphate levels, malnutrition and osteoporosis.
  • Brachioskeletogenital syndrome: A rare syndrome characterized by
  • Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
  • Brachycephalofrontonasal dysplasia: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
  • Brachycephaly -- deafness -- cataract -- mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
  • Brachycephaly -- deafness -- cataract -- microstomia -- mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
  • Brachydactylous dwarfism, Mseleni type: A very rare syndrome characterized primarily by progressive joint disease, short stature and short fingers and toes. The joint disease affects mainly the hips, knees, ankles and spine. The condition can eventually lead to disability and hip and/or knee replacements in serious cases.
  • Brachydactyly: Brachydactyly refers to abnormally short fingers and toes.
  • Brachydactyly -- dwarfism -- mental retardation: A very rare syndrome characterized by short fingers, very short stature and mental retardation.
  • Brachydactyly -- scoliosis -- carpal fusion: A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones.
  • Brachydactyly -- tibial hypoplasia: A rare syndrome characterized by short digits and an underdeveloped or absent shin bone.
  • Brachydactyly, long thumb type: A rare digital anomaly characterized by short fingers and a long thumb.
  • Brachymetapody, anodontia, hypotrichosis, albinoidism: A rare syndrome characterized by short foot bones, total absence of teeth, reduced amount of hair and lack of skin pigmentation.
  • Brachyolmia: A syndrome characterized mainly by short trunk dwarfism. There are several different subtypes, each with different additional features.
  • Brachyolmia, recessive Hobaek type: A rare bone disorder characterized by a short trunk dwarfism.
  • Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia: A rare syndrome characterized mainly by short digits, extra digits and a small or absent shin bone.
  • Braddock Jones Superneau syndrome: A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the brain and interferes with the movement of fluid through the brain resulting in an accumulation of fluid.
  • Brain -- bone -- fat: A rare inherited disease characterized by bone cysts and progressive presenile dementia.
  • Brain Stem Neoplasms: A brain stem tumor. The tumor may be malignant or benign and the severity of the condition is determined by the size of the tumor and exact location.
  • Brain abscess: abscess in the brain may involve any of the lobes of the brain
  • Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct: A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of the upper lip.
  • Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and: A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of upper lip.
  • Branchio-Oculo-Facial Syndrome: A rare genetic disorder characterized by branchial defects, lacrimal duct obstruction and pseudocleft of upper lip.
  • Branchiootic syndrome: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset.
  • Breast Duct Papilloma: Benign tumour of the collecting duct of the breast.
  • Brittle bone syndrome lethal type: A rare form of brittle bone disease caused by abnormal collagen production which results in weak bones which break easily. The condition can result in death, especially during the process of birth which can result in multiple severe fractures.
  • Brittle bones in children: Brittle bones in children refer to bones in a child that are thin and can fracture easily.
  • Broberger-Zetterstrom syndrome: A type of chronic bone abscess where a infected bone forms a pus-filled cavity. The abscess may cause no symptoms for many years.
  • Brodie knee: Chronic inflammation of the knee joint.
  • Broken elbow: Fracture at the elbow joint
  • Bromides -- Teratogenic Agent: There is strong evidence to indicate that exposure to Bromides 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.
  • Bronchopulmonary dysplasia: A condition which is characterized by dysplasia of the brochopulmonary vessels
  • Brown-Sequard Syndrome: A disorder where spinal cord compression and lesions involve only half of the spinal cord.
  • Bruck syndrome: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth. There are two different subtypes of the disorder, each with a different genetic defect origin.
  • Bruck syndrome 1: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth.
  • Bruck syndrome, 2: A very rare syndrome characterized primarily by limited joint extension (congenital contractures), weak fragile bones and webbed skin at elbows and knees.
  • Brudzinski's sign: A symptom which occurs in meningitis when flexion of the neck causes flexion of the hip and knee
  • Bruns-Garland syndrome: Spinal cord damage that occurs in some diabetics and results in weakness and wasting in the arms and legs.
  • Brunzell syndrome: A rare recessively inherited syndrome characterized by a lack of skin fat (Seip syndrome), cystic angiomatosis of the long bones which can lead to fractures.
  • Budesonide -- Teratogenic Agent: There is strong evidence to indicate that exposure to Budesonide 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.
  • Bullous dystrophy, macular type: A rare condition characterized by loss of scalp hair, increased skin pigmentation, small head, mental retardation, short stature and blisters. The blisters do not form necessarily on skin that has suffered trauma but occurs spontaneously.
  • Bumps on ribs: swelling on the ribs
  • Buntinx-Lormans-Martin syndrome: A very rare syndrome characterized mainly by eye anomalies and fusion of the forearm bones.

Conditions listing medical symptoms: Bone symptoms:

The following list of conditions have 'Bone 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.

Select from the following alphabetical view of conditions which include a symptom of Bone symptoms or choose View All.

View All A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Conditions listing medical complications: Bone symptoms:

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

 

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

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