Disease Information for Ectodermal dysplasia/congenital

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Clinical Manifestations
Signs & Symptoms
Multiple papules/areola/Montgomery follicles
Absent Nails/Aplasia
Baldness/Alopecia
Bruising/Ecchymosis
Cicatrical alopecia
Hair loss
Hyperelastic Skin
Nails hypoplastic/dysplastic
Nails pitting
Small nails/congenital
Spoon nails/soft/translucent
Excessive/easy bruising tendency
Absent teeth/congenital
Delayed dentition/teething
Missing teeth/Aplastic
Hyperextensible joints Laxity Instability
Dry eyes/poor tearing
Dry eyes/Poor tearing in Children
Dryness Conjunctiva
Grainy/Gritty Eye Sensation
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Diagnostic Test Results
Other Tests & Procedures
TEST/Sweat test abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Cataract
Deafness
Dental deformities/anomalies
Hydrotic ectodermal dysplasia
Limb deformities/anomalies
Syndactyly/Webbing
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Dermatologic/Subcutaneous (category)
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus Xq12-q13.1
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiiology/Sweat Glands reduced
Process
PROCESS/Congenital/developmental (category)
PROCESS/Dysplasia/aplasia (ex)
PROCESS/Genetic expressivity variable (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
4 011 ECTODERMAL DYSPLASIAS, CONGEN ECTODERMAL DEFECT, Congenital ectodermal defect, Congenital ectodermal defect (disorder), Congenital Ectodermal Defects, Congenital ectodermal dysplasia, DEFECT CONGEN ECTODERMAL, Defect Congenital Ectodermal, Defects Congenital Ectodermal, Dysplasia Ectodermal, Dysplasias Ectodermal, ECTODERMAL DEFECT CONGEN, Ectodermal Defect Congenital, Ectodermal Defects Congenital, ectodermal dysplasia, Ectodermal dysplasia (disorder), Ectodermal dysplasia syndrome, Ectodermal Dysplasia Syndromes, Ectodermal Dysplasias, Synonym/Anhidrotic ectodermal dysplasia, Synonym/Christ-Siemens-Touraine syndrome, Synonym/Hereditary ectodermal dysplasia, Synonym/Odontoonychodysplasia with alopecia, Synonym/Siemens' syndrome
Definition
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External Links Related to Ectodermal dysplasia/congenital
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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