Disease Information for Trichorhinophalangeal congenital synd

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Poor weight gain/child
Digital deformities/symmetric
Coarsened facial features
Dysmorphic appearance/face
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Presentation/Triad Philtrum Digital Hair (Tegretol embyopathy)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Epilepsy
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Associated Diseases & Rule outs
Associated Disease & Complications
Growth retardation/failure
Trichorhinophalangeal congenital syndrome
Disease Mechanism & Classification
Class
CLASS/Facial area manifestation/disorder (ex)
CLASS/Digit disorder (ex)
CLASS/Extremities/Digits/Hand feet disorder (category)
CLASS/Systemic/no comment (category)
Drugs
DRUG/Maternal medication/fetal effect
Pathophysiology
Pathophysiology/Gene locus 8q24.12
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Gene locus 8p (Short arm chromosome 8)
Pathophysiology/Gene locus 8q24
Pathophysiology/Gene locus chromosome 8
Process
PROCESS/Congenital/developmental (category)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Dystostosis/craniofacial (ex)
Definition
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External Links Related to Trichorhinophalangeal congenital synd
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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