About The Medical Condition Type I Cockayne Syndrome
Find the definition of the medical term Type I Cockayne Syndrome. Type I Cockayne Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Type I Cockayne Syndrome
Type I Cockayne Syndrome Medical Condition |
---|
What's The Definition Of The Medical Condition Type I Cockayne Syndrome?
An inherited syndrome phenotypically characterized by unusual facies (large ears and sunken eyes), growth failure, intellectual deterioration, loss of subcutaneous fat, pigmentary retinal degeneration, neural deafness, dwarfism, photosensitivity, optic atrophy, peripheral neuropathy, and cataracts. Pathologic examination reveals a patchy loss of central myelin and white matter atrophy. Cockayne syndrome may be divided into two or more distinct genetic subtypes. (Menkes, Textbook of Child Neurology, 5th ed, p197)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Crest, Neural ‐ A strip of specialized ectoderm flanking each side of the embryonal…
- PN-200-110 ‐ A potent antagonist of CALCIUM CHANNELS that is highly selective…
- Antibodies, Allotypic ‐ Hereditary serologic types based on antigenic differences in…
- Photosystem II Reaction Center ‐ A system consisting of proteins and cofactors which facilitates…
- Fatigue, Voice ‐ Disorders of voice pitch, loudness, or quality. Dysphonia refers…
- Drug Combinations, Anticancer ‐ The use of two or more chemicals simultaneously or sequentially…
- Conformation, Protein beta-Sheet ‐ The level of protein structure in which regular hydrogen-bond…
- Stove-in Chest ‐ A complication of multiple rib fractures, rib and sternum fractures,…
- Prenatal Injury ‐ Delayed effects on offspring of maternal or fetal prenatal exposure…
- Rates, Fertility ‐ The number of births in a given population per year or other…