an inherited disease controlled by a single pair of genes

an inherited disease controlled by several genes at once

an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism

a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels

any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism

congenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so the feces accumulate and cause megacolon

any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues

a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age

any of several congenital diseases in which the skin is dry and scaly like a fish

an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood

an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping

any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles

congenital condition in which some fingers or toes are missing

congenital condition in which some of the teeth are missing

hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness

a disease caused by a dominant mutant gene on an autosome

a disease caused by the presence of two recessive mutant genes on an autosome

a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow

a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death

a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma

an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated

thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction

a genetic abnormality resulting in short stature

congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hydrolyze lactose

a genetic abnormality of metabolism causing abdominal pains and mental confusion

a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain

a polygenic disease characterized by abnormally high glucose levels in the blood; any of several metabolic disorders marked by excessive urination and persistent thirst

a congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible to infectious disease; if untreated it is lethal within the first year or two of life

the most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known

a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth

a rare chronic disorder of lipid metabolism of genetic origin

hereditary disease; develops in adulthood and ends in dementia

hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation

hereditary condition in which certain anesthetics (e.g., halothane) cause high body temperatures and muscle rigidity

an autosomal dominant disease characterized by elongated bones (especially of limbs and digits) and abnormalities of the eyes and circulatory system

autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities

autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily

a form of muscular dystrophy that sets in in adolescence or adulthood and progresses slowly but will affect all voluntary muscles; characterized by generalized weakness and muscle wasting that affects limb and trunk muscles first; similar to Duchenne's muscular dystrophy but less severe; inheritance is X-linked recessive (carried by females but affecting only males)

a form of muscular dystrophy that sets in between 40 and 60 years of age and is characterized by weakness and wasting of the muscles of the hands and forearms and lower legs; inheritance is autosomal dominant

the most common form of muscular dystrophy; inheritance is X-linked recessive (carried by females but affecting only males)

an autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age; characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle; usually progresses slowly with cardiopulmonary complications in the later stages

an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardation

a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant

a form of muscular dystrophy that usually begins between early adulthood and middle age and first affects muscles of the eyelid and throat; progresses slowly with swallowing problems common as the disease progresses; inheritance is autosomal dominant

a disorder of lipid metabolism that is inherited as an autosomal recessive trait

a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape

a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood

a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results

autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation

autosomal recessive disease in which the degeneration of spinal nerve cells and brain nerve cells leads to atrophy of skeletal muscles and flaccid paralysis; death usually occurs in early childhood

an inherited form of anemia caused by faulty synthesis of hemoglobin

congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis

a form of dwarfism accompanied by fragile bones and bad teeth

a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency

a mild form of ichthyosis characterized by abnormal dryness and roughness of the skin