Medical terms - Letter S (page 28) | MedicalVocabulary.org

Syndrome, Gustavson

A disorder first reported in 1999 by Gustavson and colleagues as a new X-linked mental retardation syndrome. In the family they studied there were 7 male children in 2 generations with the syndrome. The affected males…
Syndrome, hand-foot-and-mouth

A clinical pattern consisting of a rash on the hands and feet and in the mouth due to a viral infection. The internal rash (the enanthem) consists of blisters and little ulcers that may involve not only the lining of…
Syndrome, Hantavirus pulmonary

The syndrome of familial Hypoparathyroidism, sensorineural Deafness, and Renal dysplasia. Inherited as an autosomal dominant trait, the syndrome is caused by haploinsufficiency of the GATA3 gene in chromosome 10p. The…
Syndrome, HDR

The syndrome of familial Hypoparathyroidism, sensorineural Deafness, and Renal dysplasia. Inherited as an autosomal dominant trait, the syndrome is caused by haploinsufficiency of the GATA3 gene in chromosome 10p. The…
Syndrome, Hecht

Inherited disorder transmitted as an autosomal dominant trait in which short tight muscles make it impossible to open the mouth fully or keep the fingers straight when the hand is flexed back. The small mouth creates…
Syndrome, HELLP

See: HELLP syndrome
Syndrome, hemolytic uremic

See: Hermansky-Pudlak syndrome.
Syndrome, Hermansky-Pudlak (HPS)

See: Hermansky-Pudlak syndrome
Syndrome, Horner

A complex of abnormal findings, namely sinking in of one eyeball, ipsilateral ptosis (drooping of the upper eyelid on the same side) and miosis (constriction of the pupil of that eye) together with anhidrosis (lack of…
Syndrome, Hurler

An inherited error of metabolism in which there is deficiency of the enzyme alpha-L-iduronidase which normally breaks down molecules called mucopolysaccharides. Without the activity of this enzyme, there is an abnormal…
Syndrome, hypoplastic left heart

A form of congenital heart disease in which the whole left half of the heart (including the aorta , aortic valve, left ventricle and mitral valve) is underdeveloped (hypoplastic). Blood returning from the lungs has to…
Syndrome, ichthyosis-keratitis-deafness

See Keratitis-ichthyosis-deafness syndrome
Syndrome, incontinentia pigmenti

A genetic disease that begins soon after birth with the development of blisters on the trunk and limbs. These blisters then heal, but leave dark hyperpigmented streaks and marble-like whorls on the skin. Other key…
Syndrome, irritable bowel (IBS)

A common gastrointestinal disorder (also called spastic colitis, mucus colitis or nervous colon syndrome), IBS is an abnormal condition of gut contractions (motility) characterized by abdominal pain, bloating, mucous in…
Syndrome, Jadassohn-Lewandowski

This is a type of what is called pachyonychia congenita (elephant nails from birth). The characteristic features include: > >Abnormally thick curved nails (onychogryposis) >Thickening of the skin (hyperkeratosis) of the…
Syndrome, Johnson-Stevens

See: Stevens-Johnson syndrome.
Syndrome, joint hypermobility

See Syndrome, hypermobility
Syndrome, Kanner

(Also called autism). A spectrum of neuropsychiatric disorders characterized by deficits in social interaction and communication, and unusual and repetitive behavior. Some, but not all, people with autism are…
Syndrome, Kartagener's

The trio of sinusitis, bronchitis and situs inversus (lateral reversal of the position all organs in the chest and abdomen with the heart and stomach on the right, the liver on the left, etc.-opposite or 'inverted' from…
Syndrome, Kawasaki

A syndrome of unknown origin, mainly affecting young children, that causes fever, reddening of the eyes (conjunctivitis), lips and mucous membranes of the mouth, ulcerative gum disease (gingivitis), swollen glands in…
Syndrome, keratitis-ichthyosis-deafness

See Keratitis-ichthyosis-deafness syndrome
Syndrome, KID

Acronym for the Keratitis- Ichthyosis-Deafness syndrome, a genetic disorder. See Keratitis-ichthyosis-deafness syndrome
Syndrome, Kimmelstiel-Wilson

Diabetic nephropathy (kidney disease). Kimmelstiel-Wilson syndrome is a kidney condition associated with long-standing diabetes. It affects the network of tiny blood vessels (the microvasculature) in the glomerulus, a…
Syndrome, kinky hair

See: Menkes syndrome
Syndrome, Klinefelter

A chromosome condition in boys and men that is usually due to their having 47 chromosomes with XXY sex chromosomes, rather than having the usual 46 chromosomes with XY sex chromosomes. XXY is one of the most common…
Syndrome, Klippel-Feil

See: Klippel-Feil sequence
Syndrome, Klippel-Trenaunay-Weber (KTW)

A congenital malformation syndrome characterized by the triad of asymmetric limb hypertrophy, hemangiomata, and nevi. 'Asymmetric limb hypertrophy' is enlargement of one limb and not the corresponding limb on the other…
Syndrome, Kostmann

A condition with a lack of neutrophils (a type of white blood cell that is important in fighting infection). Children with the syndrome suffer frequent infections from bacteria which in the past led to death in…
Syndrome, Landau-Kleffner

See Landau-Kleffner syndrome
Syndrome, Launois-Bensaude

A disorder characterized by painless symmetrical diffuse deposits of fat beneath the skin of the neck, upper trunk, arms and legs. The condition is thought to be genetic although its exact mode of inheritance is…
Syndrome, Lennox

See: Lennox syndrome
Syndrome, Lennox-Gastaut

A severe form of epilepsy that usually begins in early childhood and is characterized by frequent seizures of multiple types, mental impairment, and a particular brain wave pattern (a slow spike-and-wave pattern). The…
Syndrome, Lenz microphthalmia

See: Lenz microphthalmia syndrome
Syndrome, Li-Fraumeni (LFS)

This is an extraordinary cancer family syndrome. People with LFS have a tendency to develop a great diversity of tumors. LFS was first discovered in 1969. By reviewing the medical records and death certificates of…
Syndrome, lipodystrophy

A disturbance of lipid (fat) metabolism that involves the partial or total absence of fat and often the abnormal deposition and distribution of fat in the body. There are a number of different lipodystrophy syndromes…
Syndrome, locked-in

A neurological disorder characterized by complete paralysis of voluntary muscles in all parts of the body except for those that control eye movement. The locked-in syndrome is usually a complication of a cerebrovascular…
Syndrome, long QT

See Long QT syndrome
Syndrome, Marfan

See: Marfan syndrome
Syndrome, Martin-Bell

Better known as the fragile X syndrome, the most common heritable form of mental retardation. Fragile X syndrome is due to mutation (changes) at the fragile X site and so perforce is X-linked (carried on the X…
Syndrome, Martorell

See: Takayasu disease
Syndrome, MASA

MASA stands for mental retardation, aphasia, shuffling gait, and adducted thumbs. Features of the syndrome include (1) neurologically: mental retardation and aphasia (lack of speech); (2) limbs: adducted (clasped)…
Syndrome, MASS

A heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. Hence, the acronym MASS (Mitral valve, Aorta, Skeleton, Skin). The MASS syndrome is due to a…
Syndrome, McKusick-Kaufman

A genetic disorder in which there is build-up of fluids (called hydrometrocolpos) in the vagina and the uterus as a result of a membrane across the vagina which holds back the cervical fluid secreted in response to the…
Syndrome, MELAS

MELAS is the acronym for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes. MELAS is a form of dementia. It is caused by mutations in the genetic material (DNA) in the mitochondria. While most of…
Syndrome, Meniere

A condition with recurrent vertigo accompanied by ringing in the ears (tinnitus) and deafness. Symptoms include vertigo, dizziness, nausea, vomiting, loss of hearing (in the affected ear), and abnormal eye movements…
Syndrome, Menkes

See: Menkes syndrome
Syndrome, mucocutaneous lymph node

A syndrome of unknown origin, mainly affecting young children. It causes fever, reddening of the eyes (conjunctivitis) and lips and mucous membranes of the mouth, ulcerative gum disease (gingivitis), swollen glands in…
Syndrome, Munchhausen

Syndrome, Munchhausen: Recurrent feigning of catastrophic illnesses. Munchhausen syndrome is a psychological disorder that is characterized by the recurrent presentation of the patient for treatment of an acute and…
Syndrome, myelodysplastic

See: Myelodysplastic syndrome
Syndrome, nail-patella

See Nail-patella syndrome