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Symptoms » Back symptoms » Glossary
 

Glossary for Back symptoms

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

  • 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.
  • 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.
  • 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.
  • 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.
  • AREDYLD: A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes.
  • Abdominal aortic aneurysm: A weakness and bulging of a section of an abdominal blood vessel called the abdominal aorta. It is usually associated with severe atherosclerosis in the blood vessel.
  • Abnormal curvature of the spine: Abnormal curvature of the spine is a deformity or irregular curve of shape of the spine in the back.
  • Accumulation of cervicodorsal fat: fat accumulation in the cericodorsal region.
  • 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.
  • 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.
  • Acne-like back skin symptoms: acne is a disorder of the pilosebaceous unit. The inflammatory process varies from a papule, pustule to a nodule.Some of the acne-like eruptions on the back include
  • 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, 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.
  • Acromesomelic dysplasia: A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis.
  • 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.
  • 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.
  • Acute acne-like back skin symptoms: acne is a disorder of the pilosebaceous unit. The inflammatory process varies from a papule, pustule to a nodule.Some of the acne-like eruptions on the back include
  • Acute chronic spinal pain: diseases of the spinal cord
  • Acute chronic tailbone pain: pain due to lesions in the coccyx
  • Acute ichthyosis-like back skin symptoms: rough and dry skin on the back
  • Acute idiopathic polyneuritis: An inflammatory disorder of the peripheral nerves The condition is characterized by weakness, numbness or tingling in the legs or arms or occasionally loss of movement and feeling in the legs, arms, upper body and face. Some patients have minor symptoms and others suffer severe symptoms such as paralysis. Also called Guillain-Barre syndrome, infectious polyneuritis or acute febrile polyneuritis.
  • Acute intermittent porphyria: A rare inherited metabolic disorder caused by a disturbed porphyrin metabolism resulting in increased production of porphyrin or its precursors. Symptoms include abdominal pain, photosensitivity and neurological disturbances such as seizures, coma, hallucinations and respiratory paralysis.
  • Acute pimples on back: acne is a disorder of the pilosebaceous unit. The inflammatory process varies from a papule, pustule to a nodule
  • Acute prostatitis: An acute condition which affects the prostate which is the result of infammation
  • Acute psoriasis-like back rash: Psoriasis like plaques on the back may be seen in a few cases such as
  • Acutely arched back: also known as opisthotonus, is a state of extreme hyperextension and of the head, neck and spinal column
  • 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.
  • Adenosarcoma of the uterus: A tumor that develops from the glands that line 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 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 gland symptoms: Symptoms affecting the adrenal glands
  • 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.
  • Agenesis of the corpus callosum -- mental retardation -- coloboma -- micrognathia: A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly.
  • 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.
  • 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.
  • 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.
  • Alternating Bowel Habit IBS: It is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any organic cause. IBS may be associated with pain disorders.
  • 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.
  • Amnion rupture sequence: A rare disorder where the amniotic sac is ruptured resulting in various abnormalities.
  • 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.
  • Aneurysmal subarachnoid haemorrhage: Bleeding in the space around the brain that occurs from a leak in a weakened or dilated blood vessel under the arachnoid layer of the brain. Death can occur if treatment is not prompt.
  • Angiofollicular lymph hyperplasia: A rare disorder of the lymph system characterized by the development of benign tumors in lymph tissue anywhere in the body.
  • Angiokeratoma -- mental retardation -- coarse face: A rare inherited genetic syndrome characterized by mental retardation, coarse facial features and capillary hemangiomas.
  • 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 -- 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.
  • Anotia -- facial palsy -- cardiac defect: A rare syndrome characterized mainly missing ears, facial weakness and congenital heart defects.
  • Aorta conditions: Conditions that affect the aorta
  • Aortic Aneurysm, Thoracic: Bulging and weakness of the aorta in the area of the chest. The condition is life-threatening as death can occur rapidly if the aneurysm bursts.
  • Aortic aneurysm, familial thoracic 1: A rare familial disorder where the aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 1 is caused by a genetic defect on chromosome 11q23.3-q24.
  • Aortic aneurysm, familial thoracic 2: A rare familial disorder where the aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 2 is caused by a genetic defect on chromosome 5q13-q14.
  • Aortic aneurysm, familial thoracic 3: A rare familial disorder where the aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 3 is caused by a genetic defect on chromosome 3p22.
  • Aortic aneurysm, familial thoracic 4: A rare familial disorder where the aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 4 also involves another heart defect (patent ductus arteriosus) and is caused by a genetic defect on chromosome 16p13.13-p13.12.
  • Aortic aneurysm, familial thoracic 5: A rare familial disorder where the aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 5 is caused by a genetic defect on chromosome 9q33-q34.
  • Aphalangy -- hemivertebrae -- urogenital-intestinal dysgenesis: A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs.
  • Appendicitis/acute appendicitis/chronic appendicitis:
  • 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.
  • Arthritis -- short stature -- deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
  • 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 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 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, 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.
  • Arthropathy, progressive pseudorheumatoid, of childhood: A form of progressive rheumatoid arthritis that affects children.
  • Ashley syndrome: A rare syndrome characterized mainly by an unusual facial appearance and muscle and skeletal abnormalities.
  • Asymmetric short stature syndrome: A rare disorder characterized mainly by short stature, unequal leg lengths and facial anomalies.
  • Athabaskan severe combined immunodeficiency: A severe immunodeficiency disorder found in Navajo and Apache populations.
  • Aural atresia -- multiple congenital anomalies -- mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
  • 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.
  • Autosomal Recessive Polycystic Kidney Disease: Severe form of PKD, a genetic kidney disease.
  • Autosomal dominant polycystic kidney disease: Genetic kidney disease causing kidney cysts.
  • Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities: A rare syndrome characterized mainly by skeletal abnormalities, excess fluid inside the skull and eye anomalies.
  • Axial osteomalacia: A rare bone disorder where an enzyme defect affects bone formation that primarily affects the ribs and iliac crest (hip bone).
  • 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.
  • Back bleeding: Bleeding due to any physical trauma.
  • Back blister: Blisters are small raised lesions less than 0.5 mm in diameter can be seen on any part of the body.
  • Back blueness: A blue discolouration on the back
  • Back bruise: A haematoma that occurs on the back.
  • Back burning sensation: A burning sensation on the back
  • Back coldness: A cold sensation occurring on the back
  • Back coldness sensation: A cold sensation occurring on the back
  • Back conditions: A group of conditions that affect the back
  • Back deformity: Congenital or acquired back deformities.
  • Back injuries: A term usually used to describe any musculoskeletal back injury - a common workplace occurrence.
  • Back itch: A sensation that causes a desire to scratch the skin of the back
  • Back lump: A palpable lesion located anatomically at or near the ankle joint
  • Back muscle pain: The occurrence of the sensation of muscle pain anatomically located in the back
  • Back muscle pain in pregnancy: Back muscle pain in pregnancy usually occurs in the lower back, and the description can sometimes also refer to pain arising from the pelvic girdle.
  • Back numbness: A loss of sensation located at or around the back
  • Back pain: Pain in the back region.
  • Back pain in children: Back pain in children is a condition in which a child feels pain or discomfort in the back.
  • Back pain in pregnancy: Back pain in pregnancy usually occurs in the lower back, and the description can sometimes also refer to pain arising from the pelvic girdle.
  • Back paralysis: Paralysis of the back that results in an inability to move it
  • Back paresthesia (tingling): A loss of sensation located at or around the back
  • Back rash: An eruption on the skin of the back.
  • Back rash in children: Back rash in children is an abnormal condition of the skin or eruption of the skin on the back of a child.
  • Back redness: Erythematosus inflammation of the back.
  • Back rigidity: Back rigidity is extreme stiffness of the back.
  • Back spasm: A sudden involuntary contraction of the muscles of the back.
  • Back sprain: Damage to ligaments in the back.
  • Back swelling: A palpable mass located anatomically at or near the ankle joint
  • Back symptoms: Symptoms affecting the back
  • Back symptoms in pregnancy: Back symptoms in pregnancy usually occur in the lower back, and the description can sometimes also refer to pain arising from the pelvic girdle.
  • Back tingling/ paresthesias: Back tingling/paresthesias refers to tingling and other abnormal or unusual sensations in the back, such as burning, numbness, and pins and needles.
  • 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.
  • Back weakness: A decrease in the usual strength of the movements of the back
  • Backache: The occurrence of the sensation of pain located in the anatomical position of the back
  • Backache in pregnancy: Backache in pregnancy usually occurs in the lower back, and the description can sometimes also refer to pain arising from the pelvic girdle.
  • Bacterial endocarditis: Infection and inflammation of the inner layers of the heart, most commonly the valves cause by bacteria.
  • Bacterial prostatitis: Bacterial prostatitis is a bacterial inflammation of the prostate gland, in men.
  • Bad back: it is the pain felt in the back which usually originates from the nerves, muscle, bones or joints of the spine
  • Bad back in pregnancy: Bad back in pregnancy usually occurs in the lower back, and the description can sometimes also refer to pain arising from the pelvic girdle.
  • 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.
  • Barsony-Polgar syndrome 1: Nerve pain associated with the hip. Pregnancy and physical activity can make symptoms worse.
  • Bartenwerfer syndrome: A rare disorder characterized by dwarfism and facial and skeletal abnormalities. The disorder is a variant of Morquio disease.
  • Bartonella infections: Infection with bacteria from the Bartonella genus of bacteria. Specific bacteria from within this group are Bartonella bacilliforms (Oroya fever), Bartonella Heneslae (Cat-scratch disease). Other conditions caused by this bacteria are endocarditis, bacteremia and angiomatosis. Symptoms vary depending on the type of bacteria involved and the severity of the infection - immunocompromised patients face greater risk of severe infection.
  • 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.
  • Beals syndrome: A rare genetic connective tissue disorder characterized by joint contractures, arachnodactyly and a crumpled appearing ear.
  • Beardwell syndrome: A very rare syndrome characterized primarily by abnormal calcium deposits along the vertebrae as well as the development of calluses on the palms and soles.
  • Becker Muscular Dystrophy: A muscular dystrophy charaterised by enlargement of muscles
  • 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.
  • Becker's muscular dystrophy (BMD): A slowly progressing muscle wasting disease that affects mainly the hip and shoulder muscles.
  • Behcet's syndrome: Recurring inflammation of small blood vessels affecting various areas.
  • Bentham-Driessen-Hanveld syndrome: A rare syndrome characterized mainly by the association of undescended testes, long thin fingers and mental retardation.
  • Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.
  • 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.
  • Biliary tract cancer: Cancer that develops in the gallbladder or bile ducts.
  • Blood cancer: Malignancy of one or several of the different types of cells in the blood
  • Bone dysplasia -- corpus callosum agenesis: A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities.
  • 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 symptoms: Symptoms affecting the body's bones
  • 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.
  • Borrone-Di Rocco-Crovato syndrome: A rare progressive syndrome characterized by skin, heart and skeletal defects. Only several reported cases of the condition.
  • Bowing of long bones congenital: A rare congenital disorder where the long bones in the arms and legs are abnormally bowed or shortened. The most common bones involved are the thigh, shin and forearm (ulna) bones. The deformity is often associated with other abnormalities.
  • Bowing, congenital, short bones: A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones.
  • 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.
  • Brachyolmia: A syndrome characterized mainly by short trunk dwarfism. There are several different subtypes, each with different additional features.
  • Brachyrachia: A rare inherited spine condition characterized by dwarfism due to a short spine.
  • Breakdance back syndrome: Difficulty bending over and lower back pain caused by breakdancing.
  • Bright's Disease: A condition where the parts of the kidneys that are responsible for filtering become inflamed and results in blood and proteins accidentally leaking into the urine. The condition can occur after certain infections and serious kidney dysfunction can result in severe or chronic complications.
  • Brucellosis: An infectious disease caused by the Brucella genus which is transmitted from animals to humans.
  • Bruns-Garland syndrome: Spinal cord damage that occurs in some diabetics and results in weakness and wasting in the arms and legs.
  • Buntinx-Lormans-Martin syndrome: A very rare syndrome characterized mainly by eye anomalies and fusion of the forearm bones.
  • Burning symptoms: Any burning or burn-like sensations.
  • Bwamba virus: A viral illness caused by a species of bunyavirus and transmitted by mosquitoes. The main symptom is fever and it is often mistaken for malaria. Symptoms generally persist for 5 to 7 days. The virus is most common in East Africa.
  • CAMFAK syndrome: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature.
  • CDG syndrome type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • CVA tenderness: CVA tenderness in discomfort in the flank area (lower sides of the back) when it is tapped or pressed.
  • Campomelic Syndrome: A rare condition characterized by dwarfism due to bowed shin and thigh bones as well as various craniofacial and other skeletal anomalies.
  • Campomelic dwarfism: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Campomelic dysplasia: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Camptodactyly -- fibrous tissue hyperplasia -- skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
  • Camptodactyly syndrome, Guadalajara type 1: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.
  • Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
  • Camptodactyly, tall stature, and hearing loss syndrome: A rare syndrome characterized mainly by camptodactyly, tall stature and hearing loss. The hearing loss starts at birth or during infancy and progresses during childhood resulting in mild to severe hearing impairment.
  • Camptomelic dysplasia I: A rare condition characterized by dwarfism due to bowed shin and thigh bones.
  • Camptomelic dysplasia II: A rare condition characterized by dwarfism due to bowed shin and thigh bones which tend to be shorter and wider than normal.
  • Camurati-Engelmann Disease: A very rare genetic disease thickening of areas of bone causing pain, weakness and wasting. Usually affects the legs during childhood. Also called diaphyseal dysplasia.
  • Cantu Sanchez-Corona Garcia-cruz syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
  • Carbohydrate deficiency glycoprotein syndrome type II: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2 is caused by a genetic defect which involves the gene for a particular enzyme (Golgi localized N-acetyl-glucosaminyltransferase II). Type 2 tends to have more severe psychomotor retardation than type 1 but there is no peripheral neuropathy or underdeveloped cerebellum.
  • Carcinomatous meningitis: Carcinomatous meningitis, is a form of metastatic cancer that has spread to the lining of the brain and spinal cord, the parts of the body that make up the central nervous system.
  • Cardiomyopathy cataract hip spine disease: A rare genetic disorder characterized by heart muscle disease, cataracts and hip and spinal problems.
  • Cartilage Hair Hypoplasia: An inherited disorder characterized by short-limb dwarfism as well as hair that is short, fine, brittle and often light colored.
  • Cartilage-hair hypoplasia-like syndrome: A rare syndrome characterized by thin hair shafts, short stature, short limbs and other skeletal abnormalities. The condition is identical to the skeletal abnormality component of cartilage-hair hypoplasia syndrome.
  • Carukia barnesi sting: The Irukandji jellyfish is a very small type of box jellyfish found mainly in the northern tropical waters of Australia. Their sting is not particularly painful by the ensuing symptoms can be severe and life-threatening.
  • Cast syndrome: Obstruction of the third part of the duodenum by an artery following the use of a body plaster cast or a Bradford frame.
  • Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.
  • Cat scratch disease: An infectious disease transmitted through a cat's bite, scratch or lick and resulting primarily in lymph node pain and swelling. The condition can be mild or severe.
  • Cat's cry: A chromosomal disorder marked by microcephaly, epicanthal folds, micrognathia, strabismus, mental and physical retardation, and a characteristic catlike whine
  • Cauda equina syndrome: Is a neurological syndrome which occurs when a vertebral disc protrudes and compresses the spinal cord.
  • Caudal duplication: A rare disorder where some of the embryonic tissues that develop into the lower spine, genitalia and lower abdominal organs are duplicated - probably due to the incomplete separation of twins arising from one egg. The range of possible defects is extensive but often they are able to be surgically corrected and a relatively normal life is possible.
  • Cavernous hemangioma: A harmless proliferation of blood vessels which form a tumor-like mass of blood filled spaces which can occur anywhere in the body and is present at birth or develops soon after. It occurs in deeper layers of the skin as opposed to the top skin layers and the color may vary according to the depth of the lesion.
  • Cerebellar ataxia, X-linked: A disorder where degeneration of certain parts of the brain results in symptoms such as ataxia. The rate of progression can vary.
  • Cerebellar atrophy with progressive microcephaly: A very rare disorder characterized mainly by a small brain, small head, underdeveloped brain, brain degeneration, contractures, eye problems and seizures.
  • Cerebelloparenchymal autosomal recessive disorder 3: A rare, recessively inherited disorder characterized mainly by albinism, incoordination, low muscle tone and eye problems.
  • Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A rare inherited condition characterized primarily by progressive degeneration of the brain white matter and disease of the brain blood vessels as well as additional symptoms not involving the brain e.g. thin skin, alopecia and spinal disc disease.
  • Cerebro oculo skeleto renal syndrome: A very rare syndrome characterized mainly by brain, eye, skeletal and kidney abnormalities.
  • Cerebrospinal fluid leakage: cerebrospinal fluid leak may occur from the nose, auditory canal or from a traumatic opening in the skull or spine
  • Cervical cord injury: trauma to the cervical spine
  • Cervical injury: damage to white matter or myelinated fiber tracts that carry sensation and motor signals to and from the brain
  • Cervical stenosis: when the cervical opening is closed
  • Cervicitis: A condition which is characterized by inflammation of the cervix
  • Charcot-Marie-Tooth Disorder: Degeneration of limb muscles.
  • Charcot-Marie-Tooth disease, Type 2K: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2K has an autosomal dominant inheritance and involves a defect on chromosome 8.
  • Charcot-Marie-Tooth disease, Type 4C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the KIAA1985 gene on chromosome 5. It involves motor and sensory problems as well as scoliosis.
  • Charcot-Marie-Tooth disease, Type 4F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4F has an autosomal recessive form of inheritance and is a severe form of the disease. It involves a defect in the PRX gene on Chromosome 19q13.
  • Charcot-Marie-Tooth disease, Type 4H: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4H has an autosomal recessive form of inheritance and involves a defect on Chromosome 11.
  • Charcot-Marie-Tooth disease, type 4: A rare group of demyelinating motor and sensory neuropathies consisting of a number of subtypes. The various subtypes are caused by different genetic defects.
  • Charcot-Marie-Tooth, demyelinating, autosomal recessive: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4 has an autosomal recessive form of inheritance and is a severe form of the disease.
  • Chat room addiction: Chat room addiction refers to the excessive amounts of time spent on computer chat rooms. When the person attempts to reduce the amount of time spent on the activity they suffer withdrawal symptoms such as irritability and anxiety. The preoccupation can cause problems with relationships and even with work performance.
  • Chemical poisoning -- Strychnine: Strychnine is used as a rodenticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chiari-Frommel syndrome: A hormonal disorder where a woman continues to produce milk even after the child has been weaned.
  • Chikungunya: A rare viral disease usually transmitted by mosquitoes and characterized by fever, rash and severe arthritis.
  • Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
  • Chlamydia: Common sexually transmitted disease often without symptoms.
  • Chlamydial infection: Infection from Chlamydia genus.
  • Cholecystitis: inflammation of the gall bladder.
  • Chondrodysplasia punctata lethal neonatal: A rare skeletal disorder which results in the infant's death before or soon after birth. Symptoms include a variety of severe skeletal abnormalities and an enlarged head.
  • Chondrodysplasia punctata, non rhizomelic type: A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The non-rhizomelic forms tend to be milder, with minimal or no upper limb shortening. The Joints in the ends of the arms and legs tend to be more affected. Some of the specific disorders in this group are Conradi-Hunermann disease, Happle's chondrodysplasia and brachytelephalagnic chondrodysplasia punctata. The range of symptoms and severity may vary between disorders.
  • Chondrodysplasia, type Nance-Sweeney: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
  • Chondrodystrophia calcificans congenita: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
  • Chondrodystrophia punctata, autosomal dominant: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
  • Chordoma: Chordomas are tumors originating from embryonic remnants of the primitive notochord
  • Christian-Demyer-Franken syndrome: A rare syndrome characterized mainly by mental retardation and skeletal abnormalities.
  • Chromophil renal cell carcinoma: A type of kidney tumor where the cells that make up the tumor take up dye readily during pathology testing.
  • Chromophobe renal cell carcinoma: A rare type of kidney tumor. The cells that make up the tumor tend to be clear and do not readily take up dye during pathology analysis. Metastasis often only occurs late in the course of the disease and surgical removal usually leads to a good prognosis.
  • Chromosome 1(q12q22) duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q12q22) of chromosome 1 which results in various abnormalities.
  • Chromosome 1, Terminal deletion: A genetic disorder where a portion of the genetic material from the long arm of chromosome 1 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 1, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 10, Monosomy 10p:
  • Chromosome 10, distal trisomy 10q: A rare chromosomal disorder where the distal portion of the long arm of chromosome 10 is duplicated so there is three copies of it instead of the normal two. The condition is characterized by drooping upper eyelid, short palpebral fissures and camptodactyly.
  • Chromosome 10, trisomy 10pter p13: A rare chromosomal disorder where duplication of a portion of chromosome 10 causes various abnormalities such as a wasted build, gut and heart placement abnormalities and lack of reflexes.
  • Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
  • Chromosome 12 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 12, Isochromosome 12p Mosaic: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
  • Chromosome 12p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities.
  • Chromosome 13, Partial Monosomy 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 14 uniparental disomy syndrome: A rare chromosomal disorder where two homologues are obtained from one parent.
  • Chromosome 14q, proximal duplication: A rare chromosomal disorder where duplication of a portion of chromosome 14 causes various abnormalities such as facial dysmorphism, limb abnormalities, mental retardation and short stature.
  • Chromosome 15 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 15 inverted duplication: A rare chromosomal disorder involving an duplicated section of chromosome 15 which is reversed end-to-end resulting in various abnormalities.
  • Chromosome 15, distal trisomy 15q: A very rare chromosomal disorder where the end part of the long arm (q) of chromosome 15 occurs three times in each cell instead of two. Symptoms and severity depend on the size of the chromosomal portion that is duplicated.
  • Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 15q tetrasomy syndrome: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities.
  • Chromosome 15q, partial duplication (distal q arm): A rare chromosomal disorder involving an extra copy of genetic material from the distal part of the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 15q, tetrasomy: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is involved.
  • Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 17q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.
  • Chromosome 18, trisomy 18q: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 19p duplication syndrome: A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities.
  • Chromosome 19q, partial duplication: A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion.
  • Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
  • Chromosome 2, monosomy 2q37: A very rare chromosomal disorder where a part of the long arm of chromosome 2 is missing which results in various birth defects and abnormalities. The features of the disorder are determined by the exact size and location of the deletion.
  • Chromosome 2, trisomy 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 20, deletion 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 20p deletion syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 20p, partial duplication: A rare chromosomal disorder where a copy of the short arm of chromosome 20 has been triplicated instead of duplicated resulting in various anomalies.
  • Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
  • Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
  • Chromosome 22, microdeletion 22q11: A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted.
  • Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
  • Chromosome 22q deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
  • Chromosome 22q11 deletion: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • Chromosome 2p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 2p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 3, Monosomy 3p2: A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. Symptoms vary according to the exact size and location of the deletion.
  • Chromosome 3, Trisomy 3q2: A rare chromosomal disorder involving the duplication of a portion of the long arm of chromosome 3. The symptoms are determined by the size and exact location of the duplicated portion.
  • Chromosome 3, monosomy 3p25: A rare chromosomal disorder characterized by mental retardation, short stature, deafness, extra digits, facial anomalies and various other abnormalities.
  • Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 4 Ring: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
  • Chromosome 4 ring syndrome: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
  • Chromosome 4 short arm deletion: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 4, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.
  • Chromosome 4, trisomy 4p: A rare chromosomal disorder where a portion of chromosome four is duplicated so there is three copies of it instead of the normal two.
  • Chromosome 4, trisomy 4q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 4p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 4q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
  • Chromosome 6 Ring: A rare chromosomal disorder where the ends of chromosome 6 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
  • Chromosome 6 ring syndrome: A rare chromosomal disorder where the ends of chromosome 6 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
  • Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 6, partial trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
  • Chromosome 6, trisomy 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 6q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 7, trisomy 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 7q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
  • Chromosome 8 ring: A rare chromosomal disorder involving chromosome 8 which causes various abnormalities such as mental retardation, ureter anomalies, finger defects and facial dysmorphism.
  • Chromosome 8 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.
  • Chromosome 8, monosomy 8q: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 8, mosaic trisomy: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Chromosome 8, trisomy: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Chromosome 8, trisomy 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
  • Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Chromosome 8p deletion syndrome: A rare chromosomal disorder involving deletion of the short arm (p) of chromosome 8 resulting in various abnormalities.
  • Chromosome 8p duplication syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
  • Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
  • Chromosome 8p mosaic tetrasomy: A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body's cells instead of the normal two resulting in various abnormalities.
  • Chromosome 8q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Chromosome 9 inversion or duplication: A very rare genetic disorder where a portion of chromosome 9 is inverted or duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9, Partial Monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • Chromosome 9, Trisomy 9p (Multiple Variants): A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities.
  • Chromosome 9, monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities.
  • Chromosome 9, partial trisomy 9p: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9, trisomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two.
  • Chromosome 9, trisomy 9q: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9/mosaic: A rare chromosomal disorder where chromosome 9 is duplicated in some of the body's cells resulting in various abnormalities determined by the type and number of cells that contain the extra genetic material.
  • Chromosome 9p deletion syndrome: A rare genetic disorder where a portion of the genetic material from the short arm of chromosome 9 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 9q duplication: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
  • Chromosome Xp11.23-p11.22 Duplication syndrome: A rare syndrome characterized by the association of a large head, lack of hair, scoliosis and a skin anomaly. The reported patients tend to involve parents who were related.
  • Chromosomes 1 and 2, monosomy 2q duplication 1p: A very rare chromosomal disorder where a portion of chromosome 2q shifts to chromosome 1p resulting in duplication of chromosome 1p and deletion of chromosome 2q. The defect results in various abnormalities including retarded fetal growth, small head and skeletal and facial defects.
  • Chronic aching back pain: Sacroiliac joint problems are a common yet frequently overlooked cause of low back pain.
  • Chronic acne-like back skin symptoms: acne is a disorder of the pilosebaceous unit. The inflammatory process varies from a papule, pustule to a nodule.Some of the acne-like eruptions on the back include
  • Chronic ichthyosis-like back skin symptoms: rough and dry skin on the back
  • Chronic pimples on back: acne is a disorder of the pilosebaceous unit. The inflammatory process varies from a papule, pustule to a nodule
  • Chronic psoriasis-like back rash: Psoriasis like plaques on the back may be seen in a few cases such as
  • Chronic renal insufficiency: Chronic lack of function of the renal system. Kidneys.
  • Chronic sciatic back pain: Sciatic back pain problems are a common yet frequently overlooked cause of low back pain
  • Chronic sciatic pain on one side: neuralgia along the nerve course of the sciatic nerve
  • Chronic spinal pain: diseases of the spinal cord
  • Chronic spinal pain increased by exercise: Chronic spinal pain is among the most common and most intractable of pain disorders. Chronic diseases of the spinal cord which are exacerbated by exercise include
  • Chronic tailbone pain: pain due to lesions in the coccyx
  • Clear cell renal cell carcinoma: A type of kidney tumor where the cells that make up the tumor are clear.
  • Cleft lip -- palate -- abnormal thumbs -- microcephaly: A very rare syndrome characterized by a small head, thumb abnormalities and a cleft lip and palate.
  • Cleft palate -- short stature -- vertebral anomalies: A very rare syndrome characterized by a cleft palate, short stature and abnormalities of the vertebrae in the spine.
  • Clomiphene Citrate -- Teratogenic Agent: There is evidence to indicate that exposure to Clomiphene Citrate 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.
  • Coccydynia: pain in the area of the coccyx (tailbone)
  • Coccydynia related to sports: Coccydynia is a type of tailbone pain, it is also known as coccygodynia is pain in the area of the coccyx or tail bone as it is sometimes called. It is five times more common in women than men.
  • Coccyx pain: pain in the area of the coccyx (tailbone) is called coccydynia or coccygodynia
  • Coenzyme Q 10 (CoQ10), deficiency: A rare inherited disorder characterized by the deficiency of Coenzyme Q 10. The range and severity of symptoms is variable.
  • Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
  • Cohen Syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth.
  • Cold-induced sweating syndrome 2: A rare disorder characterized mainly by the inability to sweat in hot weather and excessive sweating on exposure to cold weather.
  • Colicky pain in the lower sacrum: type of pain which is catchy in nature
  • Collagenopathy, type 2 alpha 1: Collagenopathy, type 2 alpha 1refers to a wide range of conditions that can result from problems with cartilage collagen tissue due to a defect in the COL2A1 gene. Defects in the COL2A1 gene result in defective or reduced collagen production which in turn affects the development of connective tissues including bones. There are a wide range of possible conditions and symptoms. Some of the conditions include: spondyloepiphyseal dysplasia congenita, Stickler Syndrome, hypochondrogenesis and Kneist dysplasia.
  • Collecting duct carcinoma: A rare, aggressive type of kidney cancer that arises from the kidney collecting ducts. The cancer cells can form irregular tubes.
  • Colorectal Polyps: Polyp growths in the colon or rectum.
  • Combarros Calleja Leno syndrome: A rare disorder characterized by the association of glaucoma at birth with a form of ataxia.
  • Combat stress reaction: A term used in the military which refers to behaviors that result from the stress of fighting in a war.
  • Computer addiction: Computer addiction refers to the excessive amounts of time spent on the computer. The preoccupation can cause problems with relationships and even with work performance. The time spent on the computer does not refer to work-related activities.
  • Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Congenital Gigantism with Skeletal Dysplasia: A rare syndrome characterized mainly by the association of a large size at birth with various skeletal anomalies.
  • Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal abnormalities: A rare syndrome characterized by overgrowth of fatty tissue, blood vessel malformations, birth marks and skeletal and spinal abnormalities. The condition is a progressive one and there have been less than 20 reported cases.
  • Congenital Muscular Dystrophy: Muscle weakness and wasting that starts at birth or around the time of birth. The severity and extent of muscle involvement is greatly variable.
  • Congenital SMA with arthrogryposis: Type of SMA (genetic motor neuron disease) appearing from birth
  • Congenital bronchogenic cyst: A rare birth condition characterized by the formation of a cyst in the middle of the chest, usually near the area where the trachea branches off. The condition may be asymptomatic but if the cyst is large enough it may cause problems by compressing nearby structures such as the trachea.
  • Congenital disorder of glycosylation type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Congenital fiber type disproportion: A rare inherited disease involving abnormalities in the growth of type I muscle fibers.
  • Congenital herpes simplex: An infant born with a herpes simplex infection transmitted through the mother. The infection may be localized or involve various internal organs and even the central nervous system in which case death can occur.
  • Connective tissue dysplasia, Spellacy type: A very rare syndrome caused by an inherited collagen disorder and characterized by skin abnormalities, skeletal and eye anomalies and joint problems.
  • Conradi-Huenermann Syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
  • Constant Back pain in children: Constant back pain in children refers to steady and continual discomfort in the back of a child.
  • Constant Sacrum pain: Constant sacrum pain refers to steady discomfort in the lowest area of the back and upper area of the buttocks.
  • Constant Whiplash pain: Constant whiplash pain is steady discomfort in the neck, upper back, and shoulder after an injury, such as a motor vehicle collision.
  • Constant back pain: Constant back pain is discomfort in the back that is steady and continual.
  • Constant backache in children: Constant backache in children refers to steady and ongoing discomfort in the back of a child.
  • Constant coccydynia: Constant coccydynia is a continuous pain in the coccyx, also called a tailbone.
  • Constant coccyx pain: Constant coccyx pain refers to discomfort in the coccyx or tailbone that is steady and continual.
  • Constant lower back pain in children: Constant lower back pain in children is steady discomfort in the lower back area of a child.
  • Constant sacroiliac pain: Constant sacroiliac pain is steady discomfort in the lowest area of the back and upper area of the buttocks.
  • Constant spinal pain in children: Constant spinal pain in children refers to steady discomfort in the spine or back of a child.
  • Constipation-predominant IBS: IBS is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits
  • Continuous spine pain: Continuous spine pain refer to steady ongoing discomfort of the spine in the back.
  • Copper toxicity: Excessive accumulation of copper in the body can cause symptoms.
  • Corneal cerebellar syndrome: A very rare syndrome involving eye problems and progressive motor control problems such as ataxia and weakness on one side of the body.
  • Cortada Koussef Matsumoto syndrome: A rare syndrome characterized by various skeletal abnormalities, small head and mental retardation.
  • Cortada-Kousseff-Matsumoto syndrome: A rare syndrome characterized by various skeletal abnormalities, small head and mental retardation.
  • Corticospinal damage: damage to the pyramidal tracts
  • Costovertebral angle tenderness: costovertebral angle tenderness - also known as or related to renal angle tenderness indicates sudden distention of the renal capsule
  • Coumarin Derivatives -- Teratogenic Agent: There is evidence to indicate that exposure to Coumarin Derivatives 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.
  • Craniofrontonasal Syndrome: A congenital condition with multiple anomalies associated with mental retardation and skeletal disfigurement.
  • Craniofrontonasal dysplasia: A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities.
  • Craniolenticulosutural dysplasia: A rare syndrome characterized by skeletal defects and an unusual facial appearance consisting mainly of a prominent forehead, wide-set eyes, broad nose and a prominent forehead with a birthmark.
  • Cri-du-chat syndrome: A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry.
  • Crisponi syndrome: A very rare syndrome characterized by excessive muscle contractions in response to stimulus, claw hand, distinctive facial features and fever. Most patients die within months of birth due to complications of hyperthermia but some cases are slowly progressive with longer survival possible.
  • Cushing's disease: A condition of hyperadrenocorticism which is secondary to excessive pituitary secretion of ACTH. Cushing's disease is different to Cushing's syndrome which refers to the effects of glucocorticoid excess from any cause.
  • Cushing-like symptoms: Symptoms similar to those of Cushing's disease
  • Cutis laxa, recessive: A recessively inherited form of cutis laxa which is characterized by loose, inelastic skin and is often associated with other serious internal disorders.
  • Cutis laxa, recessive type 1: A severe, recessively inherited form of cutis laxa which is characterized by loose, inelastic skin and emphysema early in life.
  • Cutis laxa, recessive type 2: A very rare syndrome characterized primarily by loose skin and delayed development.
  • Cyprus facial neuromusculoskeletal syndrome: A rare inherited syndrome characterized by variable neurological, muscular and skeletal abnormalities as well as a characteristic face.
  • Czeizel-Losonci syndrome: A very rare syndrome characterized by missing fingers, ureter abnormalities, webbed fingers and toes and abnormal spinal development.
  • Daish-Hardman-Lamont syndrome: A very rare syndrome characterized mainly by loose joints, tall stature and buildup of fluid inside the skull.
  • Damage to one or both of the corticospinal tracts: damage to the pyramidal tracts
  • Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy: A very rare syndrome characterized mainly by mental retardation, large head, short fingers, nearsightedness and brain abnormalities (Dandy-Walker type).
  • Danubian endemic familial nephropathy: A form of slow-progressing kidney disease that occurs in a particular geographic area which includes countries such as Bulgaria, Yugoslavia and Romania. The condition can remain asymptomatic for many years until serious kidney damage has occurred.
  • Davenport-Donlan syndrome: A very rare syndrome characterized mainly by deafness, white hair, contractures and papillomas.
  • Decreased folate: Decrease in one of the B vitamins required for red blood cell production
  • Degenerative Disc Disease: Chronic or recurrent back and neck pain due to degeneration and occasionally prolapse of spinal discs.
  • Del (2) (p15-p13): A rare chromosomal disorder characterized by severe developmental delay. The observations were made in two reported cases.
  • Del (2) (q33-q36): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2) (q37.3-qter) and dup (8) (q24.3-qter)): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (pter-25): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in 22 reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (q12-q21): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in a few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3q21) and del (13q22.2): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Del(1) (23-q25): A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing.
  • Deletion 10q: A rare disorder caused by the deletion of a portion of chromosome 10q. The range and severity of symptoms is determined by the size of the portion that is deleted.
  • Deletion 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Deletion 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Deletion 4p: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Deletion 5p: A rare chromosomal disorder involving deletion of the genetic material from the short arm (p) of chromosome 5 which results in various abnormalities. The resulting condition is often called Cri-du-Chat Syndrome and features may vary somewhat depending on the size and location of the portion of duplicated genetic material.
  • Deletion 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Deletion 8q: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Deletion of the Short Arm of Chromosome 1: A condition characterized by deletion of the short arm of chromosome 1
  • Dent-Friedman syndrome: A rare form of osteoporosis that occurs in children and adolescents and no cause can be determined.
  • Depressive disorders: Depression or its various related conditions.
  • Depressive symptoms: Inappropriate depressed mood.
  • Dermato-cardio-skeletal syndrome Borrone type: A rare progressive syndrome characterized by skin, heart and skeletal abnormalities.
  • Dermatocardioskeletal syndrome, Boronne type: A very rare syndrome characterized mainly by thick skin, thick gums, acne, short fingers and a heart defect.
  • Desbuquois dysplasia: A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities.
  • Desbuquois dysplasia-like syndrome: A rare syndrome characterized by various anomalies similar to Desbuquois syndrome but there is no mental retardation, hand abnormalities or facial anomalies involved.
  • Desbuquois syndrome: A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities.
  • Desmoplastic small round cell tumor: A rare aggressive tumor that usually develops in soft tissue and tends to grow to a large size. It usually occurs in the abdomen but may also in other parts of the body such as abdominal organs, brain, testicles, ovaries, spinal cord and skull.
  • Developmental problems: Physical or mental development difficulty.
  • DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
  • Dialyzer hypersensitivity syndrome: An anaphylactic reaction that occurs in some patients who are dialyzed on artificial kidneys. A compound (ethylene oxide) used to dry sterilize artificial kidneys is a likely allergen.
  • Diaphanospondylodysostosis: A rare disorder characterized by bone formation anomalies including a lack of bone formation in the spine during the fetal stage as well as kidney problems.
  • Diarrhea-predominant IBS: IBS is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits
  • Diastematomyelia: A congenital malformation involving a split in the spinal cord (diastematomyelia). Symptoms vary according to the size and location of the defect. Mild cases may cause few if any symptoms.
  • Diastrophic dysplasia: A rare genetic disorder characterized by short stature as well as skeletal, spine and ear abnormalities.
  • Dicoumarol -- Teratogenic Agent: There is evidence to indicate that exposure to Dicoumarol 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.
  • Dicumarol -- Teratogenic Agent: There is evidence to indicate that exposure to Dicumarol 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.
  • Diffuse idiopathic skeletal hyperostosis: A type of degenerative joint disease where spinal column ligaments lose their flexibility due to calcification.
  • Diphallus -- rachischisis -- imperforate anus: A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae.
  • Diphenadione -- Teratogenic Agent: There is evidence to indicate that exposure to Diphenadione 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.
  • Disc Disorders: Disorders that affect the discs of the spine
  • Disc herniation:
  • Disc prolapse: A misaligned or "slipped" disc in the spine.
  • Discitis: A subacute infection of the vertebral discs that usually occurs in children.
  • Disk herniation: A herniated (also called a slipped or ruptured) disc is a fragment of the disc nucleus which is pushed out of the annulus, into the spinal canal through a tear or rupture. Discs that become herniated are usually in an early stage of degeneration.
  • Diskitis: inflammation of the vertebral disk space often related to infection.
  • Distal trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
  • Disuse osteoporosis: Disuse osteoporosis is defined as localized or generalized bone loss resulting from reduction of mechanical stress on bones.
  • Dressler (D.)syndrome: A rare autoimmune blood disorder where erythrocytes are destroyed suddenly after exposure to cold (usually 15°C or lower).
  • Dreyfus syndrome: A rare syndrome characterized by flattened vertebrae, kyphoscoliosis, spinal ankylosis, short neck, dwarfism and other abnormalities.
  • Duchenne Muscular Dystrophy: An inherited degenerative disease of the muscles which progresses rapidly compared to other muscle wasting diseases.
  • Dup (2) (p22-p21): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (2) (q32-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (q21-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in fourteen reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup(1) (p31-p21): A very rare chromosomal disorder where a portion of the short arm (p31-p21) of chromosome one is duplicated. The type and severity of symptoms is variable.
  • Dup(1) (q11-q25) mosaicism: A very rare chromosomal disorder where a portion of the long arm (q11-q25) of chromosome one is duplicated in some of the body's cells.
  • Duplication 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
  • Duplication 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Duplication 6q, partial: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
  • Duplication 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Duplication 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
  • Duplication 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Duplication 9p partial: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Dwarfism: An abnormally short individual
  • Dyggve-Melchior-Clausen Syndrome: A rare genetic bone growth disorder characterized by short stature and other skeletal deformities.
  • Dyserythropoietic anemia, congenital type 1: A very rare genetic blood disorder where abnormal red blood cells are made resulting in anemia. Finger and toe abnormalities are also usually present.
  • Dysostosis: Defective bone formation.
  • Dysostosis acral with facial and genital abnormalities: A very rare inherited disorder characterized by short stature and head, face, skeletal and genital abnormalities. The facial appearance is that of a two-month old fetus. The severity and range of symptoms is variable. This dominantly inherited form of Robinow syndrome tends to be milder than the recessive form.
  • Dysraphism -- cleft lip palate -- limb reduction defects: A very rare syndrome characterized mainly by an abnormal opening in the lip and palate, forearm abnormalities, spinal cord defects and an abnormal abdominal opening allowing the abdominal contents to protrude.
  • Dysspondyloenchondromatosis: A rare disorder characterized by skeletal abnormalities and short stature.
  • Dysthymia: Chronic depression usually associated with elderly people suffering stress from a variety of causes.
  • EGE: A rare disorder where white blood cells (eosinophils) infiltrate the layers of the lining of the stomach and intestines and cause gastrointestinal symptoms. The degree of infiltration will determine the severity of symptoms.
  • Eccentrochondrodysplasia: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down.
  • Ectodermal dysplasia -- neurosensory deafness: A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis.
  • Ehlers danlos syndrome: An inherited disorder of the connective tissue causing it to become weak and fragile. Connective tissue is found in skin, muscles, tendons and ligaments and hence all of these may be affected by weakness
  • Ehlers-Danlos syndrome type VI: A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities.
  • Ehlers-Danlos syndrome with periventricular heterotopia: The association of a brain malformation (periventricular nodular heterotopia) with a connective tissue disorder called Ehlers-Danlos syndrome.
  • Ehlers-Danlos syndrome, 6B: A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities but lysyl-hydroxylase activity is normal1.
  • Ehlers-Danlos syndrome, arthrochalasic type: A rare genetic connective tissue disorder characterized by hyperextensible and fragile skin and hypermobile joints which leads to dislocations, osteoarthritis and fractures - previously known as EDS types 7A and 7B.
  • Ehlers-Danlos syndrome, classic type: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
  • Ehlers-Danlos syndrome, kyphoscoliosis type: A rare genetic connective tissue disorder caused by deficiency of the lysyl hydroxylase enzyme and is characterized by progressive scoliosis and muscle weakness and fragile sclera - previously known as EDS type 6.
  • Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
  • Emerinopathy: A rare, progressive muscle disease that starts during childhood and involves muscle weakness and wasting.
  • Emery-Dreifuss Muscular Dystrophy 1: A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures and heart conduction defects. Type 1 is linked to a defect on chromosome Xq28. Because the condition is inherited in a X-linked manner, males tend to be affected but female carriers may have only the potentially fatal heart conduction disorder without any muscle symptoms.
  • Emery-Dreifuss Muscular Dystrophy 2: A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures and heart conduction defects. Type 2 is linked to a defect on chromosome 1q21.2. Because the condition is inherited in an autosomal dominant manner so males and females may be affected.
  • Emery-Dreifuss Muscular Dystrophy 3: A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures. Type 3 is linked to a defect on chromosome 1q21.2. Because the condition is inherited in an autosomal recessive manner so males and females may be affected. Type 3 tends to not have any heart involvement.
  • Emery-Dreifuss Syndrome: An hereditary, slowly progressive muscular dystrophy which starts during childhood. The condition is marked by joint contractures and conduction disorders of the heart.
  • Emery-Dreifuss muscular dystrophy, X-linked: A muscle wasting disorder mainly involving the muscles in the arms, legs, face, neck, spine and heart. Symptoms generally only occur in males but female carriers may have some symptoms.
  • Encephalitis: Infection of the brain (as a symptom)
  • Enchondromatosis-dwarfism-deafness: A rare syndrome characterized mainly by short limbs, short stature, asymmetrical limbs, deafness and abnormal bone development.
  • Endometrial stromal sarcoma: A rare type of cancer that develops from the endometrial layer of the uterus. The cancer may be slow-growing or aggressive and may metastasize.
  • Endometriosis: Misplaced uterus tissue causing scar tissue.
  • Eng Strom syndrome: A rare syndrome characterized by short stature and episodes of locked finger joints.
  • Engelhard-Yatziv syndrome: A rare syndrome characterized mainly by droopy eyelids, small head and finger and toe abnormalities.
  • Eosinophilic enteropathy, pattern II: A rare disorder where white blood cells (eosinophils) infiltrate the top layers of the lining of the stomach and small intestine.
  • Ependymoma: A tumor that occurs in the central nervous system (brain and spinal cord). Symptoms vary according to the aggressiveness, size and exact location of the tumor.
  • Epidural abscess: Pus accumulating into an abscess on the brain
  • Epilepsy -- microcephaly -- skeletal dysplasia: A rare syndrome characterized by epilepsy, a small head and skeletal abnormalities.

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