Medical Dictionary Definitions A-Z List
Medical Dictionary Definitions A - Z - «S»:
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
chromosome). Although it is usually more severe in males than femal...
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) thumbs, absent
extensor pollicis longus and/or brevis muscles to the t...
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 mutation in the fibrillin 1 gene FBN1, the same gene as is mutated in ...
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 mother's hormones during pregnancy. Boys with this di...
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 our DNA is in the chromosomes in the cell nucleus, another import...
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.
Meniere syndrome or disease is due to dysfunction of the sem...
Syndrome, Menkes: See: Menkes syndrome....
Syndrome, mucocutaneous lymph node
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 the neck (cervical lymphadenopathy), and a...
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 often dire illness that is, in reality, not present.
The person with Munchhausen sy...
Syndrome, myelodysplastic: See: Myelodysplastic syndrome....
Syndrome, nail-patella: See Nail-patella syndrome....
Syndrome, nervous colon
Syndrome, nervous colon: A common gastrointestinal disorder involving an abnormal condition of gut contractions (motility)
characterized by abdominal pain, bloating, mucous in stools, and irregular bowel
habits with alternating
diarrhea and constipation, symptoms that tend to be chronic and to wax...
Syndrome, Noonan (NS)
Syndrome, Noonan (NS): A multifaceted genetic disorder characterized by a series of birth defects (congenital malformations) including dysmorphic (malformed) facial features, short stature after birth (postnatal growth retardation), webbing of the neck (pterygium colli), caved-in chestbone (pectus
See: Hereditary hemorrhagic telangiectasia....