CONGENITAL DISORDER

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 Dictionary entry overview: What does congenital disorder mean? 

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

1. a defect that is present at birth

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

 Dictionary entry details 

• CONGENITAL DISORDER (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 disorder" 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 disorder"):

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 

A congenital disorder of the intrahepatic bile ducts characterized by abnormal embryonal development of the ductal plates.

(Ductal Plate Malformation, NCI Thesaurus)

A congenital disorder characterized by earlier than normal closure of some or all sutures of the infant skull.

(Craniosynostosis, NCI Thesaurus)

A congenital disorder usually inherited in an autosomal recessive pattern.

(Congenital Hepatic Fibrosis, NCI Thesaurus)

A rare congenital disorder characterized by thickening or expansion of the bones.

(Congenital Cortical Hyperostosis, NCI Thesaurus)

A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia.

(Escobar Syndrome, NCI Thesaurus)

A congenital disorder characterized by blockage or absence of the extrahepatic bile ducts.

(Extrahepatic Biliary Atresia, NCI Thesaurus)

A congenital disorder characterized by blockage or absence of the intrahepatic bile ducts.

(Intrahepatic Biliary Atresia, NCI Thesaurus)

A congenital disorder characterized by the complete absence of gonadal tissue.

(Gonadal Agenesis, NCI Thesaurus)

A variation in or modification of the nucleic acid sequence of a gene that can alter its expression and may result in either a congenital disorder or the clinical presentation of a disease.

(Gene Abnormality, NCI Thesaurus)

A congenital disorder caused by mutations in the IKBKAP gene.

(Familial Dysautonomia, NCI Thesaurus)