congenital disorder

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

albinism - the congenital absence of pigmentation in the eyes and skin and hair

anencephalia, anencephaly - a defect in brain development resulting in small or missing brain hemispheres

ametria - congenital absence of the uterus

color blindness, color vision deficiency, colour blindness, colour vision deficiency - genetic inability to distinguish differences in hue

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

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

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

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

Down syndrome, Down's 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

acrocephaly, oxycephaly - a congenital abnormality of the skull; the top of the skull assumes a cone shape

cheiloschisis, cleft lip, harelip - a congenital cleft in the middle of the upper lip

cleft palate - a congenital fissure of the hard palate

defect - an imperfection in a bodily system; "visual defects"; "this device permits detection of defects in the lungs"

amelia - congenital absence of an arm or leg

meromelia - congenital absence of part of an arm or leg

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

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)

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

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

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

hermaphrodism, hermaphroditism - congenital condition in which external genitalia and internal sex organs have both male and female characteristics

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

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

congenital heart defect - a birth defect involving the heart

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

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

hyperdactyly, polydactyly - birth defect characterized by the presence of more than the normal number of fingers or toes

syndactylism, syndactyly - birth defect in which there is partial or total webbing connecting two or more fingers or toes

ankyloglossia, tongue tie - a congenital anomaly in which the mucous membrane under the tongue is too short limiting the mobility of the tongue

anomalousness, anomaly - deviation from the normal or common order or form or rule