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Disease Information for Rothmund-Thompson syndrome

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)

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