Disease Information for Norrie syndrome

Ads
Clinical Manifestations
Signs & Symptoms
Eye symptoms/signs
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Eye disorders/Blindness
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Associated Diseases & Rule outs
Rule Outs
Retrolental fibroplasia
Associated Disease & Complications
Blindness
Blindness in Children
Norrie syndrome
Disease Mechanism & Classification
Class
CLASS/Ophthalmology Specialty Population
CLASS/Pediatric disorders (ex)
CLASS/Neurologic (category)
CLASS/Ophthalmology disorders
CLASS/Eye involvement/disorder (ex)
CLASS/Eyes/accessory (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Anomalies/Deformities/Malformations (EX)
Definition

Blindness often accompanied by mental deficiency, hearing impairment, and other disorders; The original report describes the syndrome in 7 boys in a Danish family but later cases were reported in several other geographic areas, including Episkopi in Cyprus (hence the synonym Episkopi blindness);------------------------------Norrie Disease;Anderson-Warburg Syndrome; Atrophia Bulborum Hereditaria ; Episkopi Blindness; Fetal Iritis Syndrome; ND; NDP; Norrie Syndrome; Whitnall-Norman Syndrome ;

Norrie disease is a rare inherited neurodevelopmental disorder characterized by blindness in both eyes (bilateral) at birth (congenital); In some cases,

children with this disorder may also experience varying degrees of mental retardation; Additional symptoms associated with Norrie disease may include mild to profound hearing loss and additional eye abnormalities; The lenses

of the eyes may become cloudy (cataracts) during early infancy and the eyeballs may shrink (phthisis bulbi); Norrie disease is inherited as an X-linked recessive trait---------[NORD]--------------------

(Edit)

External Links Related to Norrie syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
Ads