CONGENITAL DEFECT

IPA (US):

 Dictionary entry overview: What does congenital defect mean? 

• CONGENITAL DEFECT (noun)
  The noun CONGENITAL DEFECT has 1 sense:

1. a defect that is present at birth

  Familiarity information: CONGENITAL DEFECT used as a noun is very rare.

 Dictionary entry details 

• CONGENITAL DEFECT (noun)

Sense 1

Meaning:

A defect that is present at birth

Classified under:

Nouns denoting stable states of affairs

Synonyms:

birth defect; congenital abnormality; congenital anomaly; congenital defect; congenital disorder

Hypernyms ("congenital defect" is a kind of...):

anomalousness; anomaly (deviation from the normal or common order or form or rule)

defect (an imperfection in a bodily system)

Hyponyms (each of the following is a kind of "congenital defect"):

meromelia (congenital absence of part of an arm or leg)

ankyloglossia; tongue tie (a congenital anomaly in which the mucous membrane under the tongue is too short limiting the mobility of the tongue)

syndactylism; syndactyly (birth defect in which there is partial or total webbing connecting two or more fingers or toes)

hyperdactyly; polydactyly (birth defect characterized by the presence of more than the normal number of fingers or toes)

spinocerebellar disorder (any of several congenital disorders marked by degeneration of the cerebellum and spinal cord resulting in spasticity and ataxia)

rachischisis; schistorrhachis; spina bifida (a not uncommon congenital defect in which a vertebra is malformed; unless several vertebrae are affected or there is myelomeningocele there are few symptoms; can be diagnosed by amniocentesis)

congenital heart defect (a birth defect involving the heart)

scaphocephaly (congenital malformation of the skull which is long and narrow; frequently accompanied by mental retardation)

pseudohermaphroditism (congenital condition in which a person has external genitalia of one sex and internal sex organs of the other sex)

hermaphrodism; hermaphroditism (congenital condition in which external genitalia and internal sex organs have both male and female characteristics)

polysomy (congenital defect of having one or more extra chromosomes in somatic cells)

plagiocephaly (congenital malformation of the skull in which the main axis of the skull is oblique)

myelomeningocele (a congenital defect of the central nervous system in which a sac containing part of the spinal cord and its meninges protrude through a gap in the vertebral column; frequently accompanied by hydrocephalus and mental retardation)

meningocele (a congenital anomaly of the central nervous system in which a sac protruding from the brain or the spinal meninges contains cerebrospinal fluid (but no nerve tissue))

encephalocele (protrusion of brain tissue through a congenital fissure in the skull)

ablepharia (a congenital absence of eyelids (partial or complete))

amelia (congenital absence of an arm or leg)

cleft palate (a congenital fissure of the hard palate)

cheiloschisis; cleft lip; harelip (a congenital cleft in the middle of the upper lip)

acrocephaly; oxycephaly (a congenital abnormality of the skull; the top of the skull assumes a cone shape)

Down's syndrome; Down syndrome; mongolianism; mongolism; trisomy 21 (a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation)

macroglossia (a congenital disorder characterized by an abnormally large tongue; often seen in cases of Down's syndrome)

clinodactyly (a congenital defect in which one or more toes or fingers are abnormally positioned)

clinocephalism; clinocephaly (a congenital defect in which the top of the head is depressed (concave instead of convex))

epispadias (a congenital abnormality in males in which the urethra is on the upper surface of the penis)

color blindness; color vision deficiency; colour blindness; colour vision deficiency (genetic inability to distinguish differences in hue)

ametria (congenital absence of the uterus)

anencephalia; anencephaly (a defect in brain development resulting in small or missing brain hemispheres)

albinism (the congenital absence of pigmentation in the eyes and skin and hair)

 Context examples 

The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome).

(Lentigo, NLM, Medical Subject Headings)

A congenital defect where the valve (mitral) which connects the two chambers on the left side of the heart (atrium and ventricle) is closed off.

(Mitral Valve Atresia, NICHD)

A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord.

(Neural Tube Defect, NCI Thesaurus)

A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth.

(Patent Ductus Arteriosus, NCI Thesaurus)

A congenital defect in the neck that occurs during early embryonic development.

(Branchial Cleft Remnant, NCI Thesaurus)

A congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; this is in conjunction with many small accessory spleens instead of one.

(Heterotaxy Syndrome with Polysplenia, NCI Thesaurus)

A congenital defect characterized by the absence or hypoplasia of one or more extremities.

(Ectromelia, NCI Thesaurus)

A congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; this is in conjunction the absence of a spleen.

(Heterotaxy Syndrome with Asplenia, NCI Thesaurus)

Mutations in the gene are associated with a number of congenital defects.

(FBN1 wt Allele, NCI Thesaurus)

Mutations in this gene are associated with several congenital defects.

(GATA6 wt Allele, NCI Thesaurus)