Genetic and Medical Glossary

congenital heart defect in which parts of the tricuspid valve are abnormal

outermost of the three primary germ layers of an embryo, from which the epidermis, nervous tissue, and sense organs develop

abnormal place or position

congenital malformation in which the heart is abnormally located either partially or totally outside of the thorax

outward turning (eversion) or rotation of the eyelid; usually involves the lower eyelid

also known as trisomy 18; a chromosomal disorder in which there is an extra copy of chromosome 18; newborns commonly have small eyes, deformed ears, heart defects, and severe intellectual impairment; mortality is high

chromosomal disorder in which there is a supernumerary chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22 in each cell, expressed as der(22); characterized in infancy by weak muscle tone (hypotonia), failure to thrive, distinct facial appearance, and developmental delay; severe to profound intellectual disability is common

birth defect associated with skull defects characterized by partial lacking of bone fusion leaving a gap through which a portion of the brain protrudes outside the skull

congenital heart condition in which the walls separating all four chambers of the heart are poorly formed or absent

inward turning (inversion) of the eyelid margin

redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva

fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus

unequal conjoined twins in which the smaller, incomplete parasite is attached to the larger autosite at the lower jaw

neurological disorder marked by sudden recurrent episodes of sensory disturbance, loss of consciousness, or convulsions, associated with abnormal electrical activity in the brain

resembling epilepsy or its manifestations

birth defect in which the esophagus (the tube that connects the throat with the stomach) does not develop normally and is separated into two parts, an upper and lower segment one of which end in a blind pouch; the two segments do not connect and the normal passage between the mouth and stomach does not exist

the cause or causes of a disease or disorder

the normal number of chromosomes for a cell or organism, 46 in the case of humans

disorder wherein the brain is located outside of the skull, causing the neural tissue to gradually degenerate; usually found in embryos as an early stage of anencephaly

entire portion of the protein-coding sequences of the genome, omitting introns and noncoding DNA

a segment of a DNA or RNA molecule containing information coding for a protein or peptide sequence, usually flanked by introns

abnormal protrusion of the eyeballs

benign outgrowth of cartilaginous tissue on a bone

the degree to which a genotype is expressed as a phenotype

Eversion of a hollow organ at birth, eg, exstrophic bladder is turned inside out like a rubber glove

diarrhea that occurs in diseases characterized by inflammation or destruction of intestinal mucosa

short discontinuity of the margin of the lower or upper eyelid