Disease Information for Rothmund-Thompson syndrome

Ads
Clinical Manifestations
Signs & Symptoms
Depressed nasal bridge
Depigmented patches, skin
Hair growth/ congenital defect
Small nails/congenital
Delayed female adolescence
Delayed male adolescence/pubescence
Saddle Nose Deformity
Clinical Presentation & Variations
Presentation/Juvenile Cataract
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
X-RAY
Xray/Calcification in fingertips
Associated Diseases & Rule outs
Associated Disease & Complications
Cataract
Poikiloderma congenitale
Rothmund-Thomson syndrome
Vitiligo
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Systemic/no comment (category)
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
Congenital poikiloderma, POIKILODERMA ATROPHICANS AND CATARACT, POIKILODERMA CONGEN, poikiloderma congenital, Poikiloderma congenitale, Poikiloderma congenitale of Rothmund Thomson, Poikiloderma congenitale syndrome, Rothmund, Rothmund Thomson Syndrome, Rothmund Thomson syndrome (disorder), RTS, Syndrome Rothmund Thomson, Synonym/Poikiloderma atrophicans and cataract, Synonym/Poikiloderma congenitale, Synonym/Telangiectasia-pigmentation-cataract syndr., Synonym/Thompson-Rothmund syndrome
Definition
Be the first to add a definition for Rothmund-Thompson syndrome
External Links Related to Rothmund-Thompson 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