Genetic and Medical Glossary

"acrocephalosyndactyly" disorder characterized by anomalies of the craniofacial area and hands and feet including craniofacial asymmetry, widely spaced eyes (ocular hypertelorism) with unusually shallow eye cavities (orbits), drooping of the upper eyelids (ptosis), and strabismus; occasional "beaked" nose, deviated nasal septum, small, low-set ears; or underdeveloped upper jaw (hypoplastic maxilla), partial fusion of soft tissues (cutaneous syndactyly) of certain fingers and toes (digits); unusually short digits (brachydactyly); and broad great toes; caused by mutations in the TWIST1 gene located on the short arm (p) of chromosome 7 at 7p21; autosomal dominant inheritance

recombinant 8 syndrome; characterized by heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance and caused rearrangement of chromosome 8 that results in a deletion of a piece of the short (p) arm and a duplication of a piece of the long (q) arm

widely spaced gap between the first toe (the great toe) and the second toe

method of DNA sequencing based on the selective incorporation of chain-terminating dideoxynucleotides by DNA polymerase during in vitro DNA replication

long-term mental disorder of a type involving a breakdown in the relation between thought, emotion, and behavior, leading to faulty perception, inappropriate actions and feelings, a sense of mental fragmentation, and withdrawal from reality and personal relationships into fantasy and delusion

scarring of the cornea of the eye

side-to-side curvature of the spine

having or partitioned by a septum or septa

thin, triangular, vertical membrane separating the anterior horns of the left and right lateral ventricles of the brain

chromosomes carrying the genes responsible for determining the sex of offspring, in humans the sex chromosomes are designated X and Y; females have 2 X chromosomes and males have one X and one Y chromosome

disorders that are inherited through one of the sex chromosomes, X or Y

differences at the individual nucleotide level among individuals

cavity in the body

condition in which the heart and other organs of the body are transposed through the sagittal plane to lie on the opposite side from the usual

benign growths thought to be caused by skin friction

complex developmental disorder characterized by distinctive facial features, skeletal malformations, varying degrees of intellectual impairment, speech and motor delays, sleep disturbances, and self-injurious or attention-seeking behaviors; caused by deletion of the RAI1 gene located on the short arm of chromosome 17 within the 17p11.2 region

change in the genetic structure that is neither inherited nor passed to offspring; can occur in any of the cells of the body except the germ cells (sperm and egg)

overgrowth disorder, characterized by excessive growth prenatally and postnatally, a large elongated head, distinctive facial configuration, and a non-progressive neurological disorder with intellectual disability; may show advanced bone age; caused by mutation in the NSD1 gene located on the long arm of chromosome 5 at 5q35.2-q35.3

state of increased tone of a muscle (and an increase in the deep tendon reflexes

disorder of the red blood cell membrane clinically characterized by anemia, jaundice (yellowing) and splenomegaly (enlargement of the spleen)

major birth defect and a type of neural tube defect that involves an opening in the vertebral column caused by the failure of the neural tube to close properly during embryonic development

longitudinal deficiency of a digital ray of the foot except rays 1 or 5

longitudinal deficiency of a digital ray of the hand except rays 1 or 5

an undifferentiated cell that retains the ability to give rise to other, more specialized cells

abnormal narrowing or contraction of a duct or canal

pedunculated skin and subcutaneous tissue originating from the sternal area

Any of three codons, UAA, UAG, or UGA, that signal the termination of the synthesis of a protein

disorder of vision due to a deviation from normal orientation of one or both eyes so that both cannot be directed at the same object at the same time; squint; crossed eyes

incomplete or partial dislocation

below the telomere, the end of a chromosome

shallow furrows on the surface of the brain separating adjacent convolutions

present in excess of the normal or requisite number, in particular

fixed form of congenital left ventricular outflow tract (LVOT) obstruction that occurs as a localized or diffuse narrowing of the ascending aorta beyond the superior margin of the sinuses of Valsalva

adhesion between an eyelid and the eyeball

condition in which fingers or toes are joined together; can involve the bones or just the skin

soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints

soft tissue continuity in the A/P axis between adjacent foot digits that involves at least half of the P/D length of one of the two involved digits

group of three or more characteristics and/or symptoms that occur together in a recognizable pattern and cause a particular disease state or condition

meeting of the medial eyebrows in the midline

union or fusion of adjacent bones by the growth of bony substance