| A |
| acanthosis nigricans | brown to black, poorly defined, velvety hyperpigmentation of the skin |
| afferent neurons | neurons that project into the cortex of the brain; sensory neurons are afferents |
| amenorrhea | lack of menses |
| angiokeratoma | benign cutaneous injury of capillaries resulting in small lesions on the skin; typically having a red to blue color |
| angiokeratoma corporus diffusum | hyperkeratinized deep-red to blue-black skin lesions |
| anion gap | defined as difference in concentration of cations other than Na+ and anions other than Cl– and HCO3–; value determined by equation as follows [Na+ – Cl– + HCO3–)] |
| apoptosis | term defining the process of programmed cell death |
| arachnodactyly | abnormally long and slender fingers and toes |
| arcus cornea | whitish ring on the peripheral cornea |
| argonaute | proteins that are components of the RISC |
| articular cartilage | cartilage covering the bony ends of the articulating joints |
| ataxia | inability to coordinate voluntary muscle movements; unsteady movements and staggering gait |
| atheromas | fat deposits in the arteries |
| atherosclerosis | condition in which an artery wall thickens as the result of a build up of fatty materials such as cholesterol |
| atlantoaxial subluxation | a mis-alignment between the 1st and 2nd cervical vertebrae |
| axial hypotonia | a floppiness associated with the inability to sit |
| B |
| Babinski reflex | the great toe flexes toward the top of the foot and the other toes fan out after the sole of the foot has been firmly stroked; also known as the extensor plantar reflex |
| bilirubin encephalopathy | characterized by yellow discoloration of the basal ganglia in babies with intense jaundice; commonly referred to as kernicterus |
| bradykinesia | slowed ability to start or stop movements |
| bromodomain | domain in proteins that binds to acetylated lysines in histones |
| bronze diabetes | bronze skin pigmentation seen in hemochromatosis, coupled with the resultant diabetes |
| C |
| calculi | stones, such as those found in kidney or gall bladder |
| cherry-red spot | a red circular area surrounded by gray-white retina as seen during an eye examination typical in lysosoaml storage diseases such as Tay-Sachs disease |
| choanal atresia | blockage in the back of the nasal passage |
| chordae tendineae | tendons that connect the papillary muscles to the tricuspid and mitral valves |
| choreoathetosis | occurrence of involuntary movements in combination with chorea which itself refers to irregular, rapid, uncontrolled, and excessive movements |
| chromodomain | domain in proteins that binds to methylated histones |
| Cooley anemia | is thalassemia major which refers to thalassemias associated with total loss of β-globin (referred to as β0-thalassemia) or partial loss (referred to as β+-thalassemia) |
| coxa valga | deformity of the hip where the angle formed between the head and neck of the femur and its shaft is increased |
| craniosynostosis | premature fusion of the cranial sutures |
| D |
| decerebrate posturing | an abnormal body posture that involves the arms and legs being held straight out, the toes being pointed downward, and the head and neck being arched backwards |
| dentigerous cysts | an odontogenic cyst associated with the crown of an unerupted, or partially erupted, tooth |
| diaphyses | the main or mid section (shaft) of the long bones |
| direct bilirubin | when bilirubin is conjugated to glucuronate the measurement of this form of bilirubin does not require addition of alcohol to promote the azotization reaction used for determining bilirubin concentration |
| dolichocephaly | elongated skull |
| dolichostenomelia | condition of unusually long and thin extremities |
| dysarthria | difficulty in articulating words caused by impairment of the muscles used in speech |
| dysmetria | lack of coordination of movements characterized by under- or over-shooting intended position |
| dysmorphic | relating to a body characteristic that is abnormally formed |
| dysphagia | disordered eating |
| dysplasia | abnormal development or growth of tissues, organs, or cells |
| dystonia | abnormal tonicity of muscle characterized by prolonged, repetitive muscle contractions that may cause twisting or jerking movements |
| dysostosis multiplex | characterized by an enlarged skull, thickened calvarium, premature closure of lamboid and sagittal sutures, shallow orbits, enlarged J-shaped sella and abnormal spacing of the teeth with dentigerous cysts |
| E |
| ectopia lentis | displacement of the crystalline lens of the eye |
| efferent neurons | neurons that project out of the cortex of the brain; motor neurons are efferents |
| epigenetics | refers to phenotype differences manifesting in the absence of genotype differences; actingonthe gene as opposed tobythe gene |
| epiphyseal | relating to the growth area near the end of a bone |
| epistaxis | relating to the nose |
| esophageal varices | extremely dilated sub-mucosal veins in the esophagus |
| exomphalos | an umbilical hernia at birth in which some abdominal organs push into the umbilical cord |
| extensor plantar response | extension of the big toe and fanning of the other toes in response to stimulation of the bottom of the foot; more commonly known as the Babinski reflex |
| F |
| favism | a condition characterized by hemolytic anemia (breakup of red blood cells) after eating fava beans (Vicia fava) |
| G |
| gingival | relating to the gums |
| glucosuria | excess urinary glucose output |
| guggulsterone | also called guggul (or guggal) or guggul lipid; is an extract from theCommiphora mukultree of India |
| H |
| hamartin | protein encoded by the tuberous sclerosis 1 (TSC1) gene |
| hemarthroses | bleeding in the joints |
| hemochromatosis | a disorder in iron metabolism that is characterized by excess iron absorption, saturation of iron-binding proteins and deposition of hemosiderin (amorphous iron deposits) in the tissues |
| hemodialysis | a method for removing waste products such as potassium and urea, as well as free water from the blood when the kidneys are in renal failure |
| hydrops fetalis | a condition in the fetus characterized by an accumulation of fluid, or edema, in at least two fetal compartments, including the subcutaneous tissue, pleura, pericardium, or in the abdomen |
| hyperlordosis | exaggerated lumbar curvature of the spine |
| hypermetric saccades | fast movement of the eyes |
| hyperphagia | excessive hunger and abnormally large intake of solid foods |
| hyperreflexia | defined as overactive or over responsive reflexes |
| hypertelorism | an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the eyes |
| hypertrichosis | excessive growth of hair in locations where it is not normally found |
| hypogonadism | a defect of the reproductive system that results in lack of function of the gonads (ovaries or testes). |
| hypoplasia | underdevelopment or incomplete development of a tissue or organ |
| hypotonia | a disorder that causes low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength |
| hypsarrhythmia | abnormal EKG patterns observed in infants suffering spasms |
| I |
| icteric | yellowish |
| immunophilin | intracellular proteins that binds to immunosuppressive drugs such as FK506 and rapamycin |
| imprinting | process whereby expression of a given gene is determined by the parental origin; involves differential DNA methylation |
| incretin | any substance/hormone that induces insulin release from the pancreas in response to food intake |
| indirect bilirubin | when bilirubin is not conjugated to glucuronate the measurement of this form of bilirubin requires the addition of alcohol to promote the azotization reaction used for determining bilirubin concentration |
| K |
| kernicterus | this is bilirubin encephalopathy which is characterized by yellow discoloration of the basal ganglia in babies with intense jaundice |
| kwashiorkor | a form of malnutrition that occurs when there is not enough protein in the diet |
| kyphoscoliosis | an abnormal curvature of the spine in both the coronal and sagittal planes, a term combined from kyphosis and scoliosis |
| L |
| leukopenia | decreased white blood cell count |
| lipoxin | anti-inflammatory eicosanoids synthesized through lipoxygenase interactions, hence the derivation of the name |
| lumbar lordosis | excessive inward curvature of the lower spine |
| M |
| macrocephaly | refers to a head circumference greater than two standard deviations above the mean for age, sex, race and gestation |
| macroglossia | enlarged tongue |
| macroorchidism | large testicles |
| menorrhagia | an abnormally heavy and prolonged menstrual period at regular intervals |
| metabolic acidosis | a disturbance in the body’s acid-base balance that results in excessive acidity of the blood; due to increased production of H+ by the body or the inability of the body to form bicarbonate; usually causes rapid breathing, confusion or lethargy may also occur |
| metabolic alkalosis | a disturbance in the body’s acid-base balance that results in excessive alkalinity of the blood caused by an elevation in plasma bicarbonate (HCO3–) concentration; in most cases, metabolic alkalosis is caused by loss of hydrochloric acid (HCl) through the kidney or GI tract, especially due to vomiting |
| metaphyses | the wider portion of a long bone adjacent to the epiphyseal plate; the part of the bone that grows during childhood |
| microcephaly | head circumference that is at least 2 standard deviations smaller than normal |
| micrognathia | abnormally small lower jaw |
| myoclonic epilepsy | a form of epilepsy associated with involuntary muscle twitching |
| myoclonus | involuntary muscle twitching |
| N |
| neuropathy | disease or abnormality in the nervous system |
| nystagmus | involuntary eye movements |
| O |
| ocular proptosis | abnormal protrusion of the eyeball |
| oculomotor apraxia | difficulty in moving the eyes from side to side |
| odontoid hypoplasia | decreased ossification of the odontoid bone which is the anterior process of the second vertebra |
| ophthalmoplegia | paralysis or weakness of one or more of the muscles that control eye movement |
| P |
| paraparesis | weakness in the lower extremities |
| parathesis | an abnormal sensation of the skin, such as numbness, tingling due to poor circulation in the limbs |
| pectus carinatum | also called pigeon chest, is a deformity of the chest characterized by a protrusion of the sternum and ribs |
| pectus excavatum | also called funnel chest, a condition in which the ribs and sternum grow inward producing a concave appearance of the anterior chest wall |
| peroxin | name for any of several proteins/enzymes functioning in the peroxisomes; usually the proteins are identified as PEX followed by a number, e.g. PEX1 |
| platyspodylia | flatness of the bodies of the vertebrae |
| pneumothorax | abnormal presence of air in the pleural cavity resulting in the collapse of the lung |
| polydactyly | refers to extra fingers and/or toes |
| polydypsia | increased thirst |
| polyphagia | increased appetite |
| polysomes | also called polyribosomes, are a cluster of ribosomes, bound to a mRNA |
| polyuria | excess urinary water and electrolyte output |
| primary amenorrhea | failure of menses to occur by age 16 |
| prosaposin | precursor protein for the saposins; designated as SAP-A, -B, C, and -D |
| proteasome | machinery in the cell for targeted destruction of proteins |
| ptosis | drooping eyelids |
| purpura fulminans | hemorrhagic condition usually associated with infection or sepsis |
| purpuric skin bleeding | bleeding from purplish patches on the skin |
| R |
| resolvin: Rv | eicosanoid derivatives that have anti-inflammatory actions that lead to the resolution of the inflammatory cycle, hence the derivation of their names as resolvins |
| respiratory acidosis | abnormal decrease in the pH of the blood (acidosis) due to decreased ventilation of the pulmonary alveoli, leading to elevated arterial carbon dioxide concentration; primarily caused by alveolar hypoventilation |
| respiratory alkalosis | results from increased alveolar respiration (hyperventilation) leading to decreased plasma carbon dioxide concentration which leads to decreased hydrogen ion and freely ionized blood calcium concentrations |
| ristocetin | an antibiotic isolated fromAmycolatopsis luridathat used to be used to treat staphylococcal infections. Ristocetin induces binding of von Willebrand factor to platelet glycoprotein Ib (GPIb) |
| S |
| saposin | any member of a small glycoprotein family required for the hydrolysis of sphingolipids by specific lysosomal hydrolases; identifed as SAP-A, -B, -C, and -D |
| scoliosis | a medical condition in which a person’s spine is curved from side to side, shaped like an “S” |
| sirtuin | human homolog of yeast silent information regulator 2, Sir2 |
| spastic paraparesis | characterized by spasms associated with weakness in the lower extremities |
| steatosis | describing the abnormal retention of lipids within a cell. It reflects an impairment of the normal processes of synthesis and elimination of triglyceride fat |
| strabismus | a disorder in which the eyes do not line up in the same direction when focusing |
| syndactyly | fusion of the fingers and/or toes, results in webbing of the digits, occurs with a frequency of 1 in 2,000 to 1 in 3,000 live births making it the most common congenital malformation of the limbs |
| T |
| telangiectasias | small dilated vessels near the surface of the ski |
| tenase complex | clotting cascade protein complex |
| thalassemia | a term relating to any genetic defect that results in reduced rate of synthesis of one of the globin chains that make up hemoglobin |
| thrombocytopenia | low platelet count |
| tophaceous deposits | sandy, gritty, nodular masses of urate crystals typical in patients with gout |
| tuberin | protein encoded by the tuberous sclerosis 2 (TSC2) gene |
| U |
| urolithiasis | urate kidney stones |
| V |
| visceromegaly | enlargement of the internal organs in the abdomen, such as liver, spleen, stomach, kidneys, or pancreas |
| X |
| xanthomas | fat deposits in the skin and tendons |
