congenital disease


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Noun1.congenital disease - a disease or disorder that is inherited geneticallycongenital disease - a disease or disorder that is inherited genetically
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
polygenic disease, polygenic disorder - an inherited disease controlled by several genes at once
achondroplasia, achondroplasty, chondrodystrophy, osteosclerosis congenita - an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
abetalipoproteinemia - 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
inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
congenital megacolon, Hirschsprung's disease - 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
mucopolysaccharidosis - 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
hyperbetalipoproteinemia - a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age
ichthyosis - any of several congenital diseases in which the skin is dry and scaly like a fish
branched chain ketoaciduria, maple syrup urine disease - 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
McArdle's disease - an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping
dystrophy, muscular dystrophy - any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
oligodactyly - congenital condition in which some fingers or toes are missing
oligodontia - congenital condition in which some of the teeth are missing
otosclerosis - hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness
autosomal dominant disease, autosomal dominant disorder - a disease caused by a dominant mutant gene on an autosome
autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
congenital pancytopenia, Fanconi's anaemia, Fanconi's anemia - a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow
juvenile amaurotic idiocy, Spielmeyer-Vogt disease - a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death
congenital afibrinogenemia - a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma
Albers-Schonberg disease, marble bones disease, osteopetrosis - an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
nevoid elephantiasis, pachyderma - thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction
dwarfism, nanism - a genetic abnormality resulting in short stature
lactase deficiency, lactose intolerance, milk intolerance - congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hydrolyze lactose
porphyria - a genetic abnormality of metabolism causing abdominal pains and mental confusion
hepatolenticular degeneration, Wilson's disease - a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain
References in periodicals archive ?
While the cause of death was not known, doctors told the family that Soares could be killed by a congenital disease that wasn't diagnosed, according to local newspaper the (https://www1.folha.uol.com.br/ilustrada/2019/04/meu-filho-era-saudavel-e-era-hora-dele-diz-mae-de-modelo-morto-na-spfw.shtml) Folha de Sao Paulo .
He pointed out that children being treated with long-standing congenital disease, suffer from rapid breathing, bluish skin, poor weight gain and constant feelings of tiredness.
"We are pleased that the FDA has granted RMAT designation to AT132, an important regulatory milestone that highlights the transformative potential of AT132 as a therapy to treat XLMTM, a rare, congenital disease characterized by extreme muscle weakness, respiratory failure and early death," stated the company.
A congenital disease that was not detected during a newborn screening test is threatening Chloe Grace Fajardo's dream of becoming a doctor.
Nationwide Children's Hospital is a not-for-profit freestanding pediatric healthcare system providing wellness, preventive, diagnostic, treatment and rehabilitative care for infants, children and adolescents, as well as adult patients with congenital disease. Nationwide Children's has a staff of nearly 13,000 providing state-of-the-art pediatric care during more than 1.4 million patient visits annually.
They are suffering from a congenital disease known as hemophilia (nothing to do with persons of royal blood), so rare that only 1,500 persons, mostly men and very rarely women, are formally registered with HAPLOS Community, an NGO born 25 years ago with a core of only 12 families.
She explained that the disorder is more common in males although it affects both males and females from all racial and ethnic backgrounds."It is a congenital disease (inherited).
PESHAWAR -- District government Friday decided to establish a special darkroom for tetanus affected children in Sifwat Ghayyur Children Hospital also a baby burn centre for congenital disease.
Most of the tests are designed to highlight whether an animal has a congenital disease, such as the eye condition glaucoma.
Gastric foregut duplication cyst is a rare congenital disease. It is usually revealed with imaging study during the diagnosis of nonspecific symptoms, such as abdominal pain, nausea, and vomiting.

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