Genetic and Medical Glossary

Glossary

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There are 40 names in this directory beginning with the letter S.
Saethre–Chotzen syndrome
"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

San Luis Valley Syndrome
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

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

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

Schizophrenia
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

Sclerocornea
scarring of the cornea of the eye

Scoliosis
side-to-side curvature of the spine

Septate
having or partitioned by a septum or septa

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

Sex chromosomes
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

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

Single nucleotide polymorphism (SNP)
differences at the individual nucleotide level among individuals

Sinus
cavity in the body

Situs inversus
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

Skin tag
benign growths thought to be caused by skin friction

Smith–Magenis syndrome
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

Somatic mutation
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)

Sotos Syndrome
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

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

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

Spina bifida
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

Split foot (ectrodactyly)
longitudinal deficiency of a digital ray of the foot except rays 1 or 5

Split hand (ectrodactyly)
longitudinal deficiency of a digital ray of the hand except rays 1 or 5

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

Stenosis
abnormal narrowing or contraction of a duct or canal

Sternal tag
pedunculated skin and subcutaneous tissue originating from the sternal area

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

Strabismus
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

Subluxation
incomplete or partial dislocation

Subtelomeric
below the telomere, the end of a chromosome

Sulci
shallow furrows on the surface of the brain separating adjacent convolutions

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

Supravalvular aortic stenosis
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

Symblepharon
adhesion between an eyelid and the eyeball

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

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

Syndactyly, cutaneous toes
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

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

Synophrys
meeting of the medial eyebrows in the midline

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

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