About The Medical Condition Type II Cockayne Syndrome
Find the definition of the medical term Type II Cockayne Syndrome. Type II Cockayne Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Type II Cockayne Syndrome
| Type II Cockayne Syndrome Medical Condition |
|---|
What's The Definition Of The Medical Condition Type II 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
- Fistula, Esophagotracheal ‐ Abnormal communication between the esophagus and the trachea,…
- GdoI Endonuclease ‐ One of the Type II site-specific deoxyribonucleases (EC 3.1.21.4).…
- CAT-1 Transport Protein ‐ A high-affinity, low capacity system y+ amino acid transporter…
- Paralyses, Myotonic Periodic ‐ An autosomal dominant familial disorder which presents in infancy…
- Amyloidosis, Familial ‐ Diseases in which there is a familial pattern of…
- Monoclate ‐ Blood-coagulation factor VIII. Antihemophilic factor that is…
- Win40680 ‐ A positive inotropic cardiotonic (CARDIOTONIC AGENTS) with vasodilator…
- Behavior Disorders, Social ‐ Behaviors which are at variance with the expected social norm…
- Vernal Conjunctivitis ‐ Conjunctivitis due to hypersensitivity to various…
- Complexes, Ventricular Premature ‐ Premature contractions of the ventricle, the most common of all…