About The Medical Condition Cockayne Syndrome, Type II
Find the definition of the medical term Cockayne Syndrome, Type II. Cockayne Syndrome, Type II defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Cockayne Syndrome, Type II
| Cockayne Syndrome, Type II Medical Condition |
|---|
What's The Definition Of The Medical Condition Cockayne Syndrome, Type II?
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
- Click-Murmur Syndromes, Mitral ‐ Abnormal protrusion of one or both of the leaflets of the mitral…
- Caelifera ‐ An order of insects comprising two suborders: Caelifera and Ensifera.…
- Gynecologic Surgical Procedure ‐ Surgery performed on the female…
- Infection, Rubivirus ‐ Virus diseases caused by the RUBIVIRUS genus, of the family…
- Otologic Surgical Procedures ‐ Surgery performed on the external, middle, or…
- Glycoprotein 330 ‐ A LDL-RECEPTOR RELATED PROTEIN found in the neuroepithelium and…
- Hypothalamic Dysinhibition Syndrome ‐ Neoplastic, inflammatory, infectious, and other diseases of the…
- Adamantinomas ‐ An epithelial tumor of the jaw originating from the epithelial…
- Fee, Medical ‐ Amounts charged to the patient as payer for medical…
- Neu Differentiation Factor ‐ A peptide factor originally identified by its ability to stimulate…