DOCTORS'
Medical Case Studies
DOCTORS'
Medical Case Studies
Cockayne syndrome
Cockayne syndrome
Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall Syndrome) is a rare autosomal recessive congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight, and premature aging. Hearing loss and eye abnormalities are other common features, but problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies. The underlying disorder is a defect in a DNA repair mechanism. It is named after English physician Edward Alfred Cockayne (1880–1956)...
Cockayne syndrome - List of case studies
- Feeding problems, vomiting and short stature in prematurely born child
-
Sweat test for CF - negative Bloom syndrome - negative. Russel Silver syndrome - negative. Cockayne Syndrome - negative. Check of many genetic disorders done in ...
- List of Examinations
-
of the platelet count Coagulation functionality Cockayne Syndrome Cognitive testing Collagen disease Collection of bone ...
- List of Diseases and Conditions
-
focus Acute EBV infection Acute coronary syndrome Acute humoral rejection Acute infectious mononucleosis ... Coagulation defects Coalition symptoms Cockayne Syndrome Cockayne syndrome Cognitive defect Cold ...
- Possible Anorexia, Vomiting, Failure to Gain Weight and Linear Growth Retardation
-
Bloom negative • Russel Silver negative • Cockayne Syndrome negative • Check of many genetic disorders done in the US (see ...