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- Disease Information
- Disease Comparison
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Disease Processes ▼
- Auto Immune
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Major Organs-Systems ▼
- Systemic
- Pediatric
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- Tissue/Cells/Organelles
Disease Information for Craniofrontonasal Syndrome (CFNS)
- Clinical Manifestations
- Signs & Symptoms
- Particular physiognomy/Odd looking kids
- Bifid nose with broad tip
- Craniofacial Abnormalities/Congenital
- Webbed neck deformity/Broad neck
- Fingernails brittle/thinner/splitting
- Longitudinal grooved nails
- Palm/simian crease (single)
- Palmar crease variations/aberrancy
- Thick wiry hair
- Shawl scrotum anomaly
- Drooling
- High arched palate
- Short first fingers/index
- Mental Deficiency Child
- Bossing forehead,infants
- Broad great toes
- Finger contractions/flexion (clinodactyly)
- Hyperextensible joints Laxity Instability
- Long thin fingers/toes (arachnodactyly)
- Narrow sloping shoulders
- Short fingers/toes (Brachydactyly)
- Wide gap between first/second toes
- Snoring
- Stridor (Inspiratory noise)
- Stridor infant Child
- Growth/development delay
- Downward sloping eyes/Antimongoloid slant
- Typical Clinical Presentation
- Females sicker than males/characteristic
- Clinical Presentation & Variations
- Presentation/Multiple deformities newborn (odd look)
- Demographics & Risk Factors
- Population Group
- Child
- Infant
- Population/Pediatrics population
- Sex & Age Groups
- Population/Child
- Population/Child-Infant Only
- Population/Children/all
- Population/Female
- Population/Infant
- Diagnostic Test Results
- X-RAY
- Xray/Frontal bossing, infant/Skull
- Xray/Increased bone density
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Airway obstruction/Children
- Cleft Lip
- Cleft lip/deformity
- Cleft palate/deformity
- Congenital anomalies
- Congenital diaphragmatic hernia
- Coronal synostosis
- Craniofrontonasal Syndrome (CFNS)
- Facial dysplasia
- Hypertelorism/Wide Spaced Eyes
- Hypospadius anomaly
- Malocclusion-Malalignment teeth/jaw
- Mental retardation
- Multiple Congenital Anomalies
- Multiple congenital anomalies/Mental retardation
- Nasal obstruction
- Pectus excavatum
- Sprengel deformity
- Strabismus
- Hand anomalies
- Disease Mechanism & Classification
- Class
- CLASS/Jablonski/NIH Archive Anomalies Database
- CLASS/Pediatric disorders (ex)
- CLASS/Facial area manifestation/disorder (ex)
- CLASS/Facial bones involvement/disorder (ex)
- Pathophysiology
- Pathophysiology/Hereditary variance/ X-linked not always
- Pathophysiology/Heterozygous females/X-link/effected
- Pathophysiology/Maternal Chromosome mutation
- Process
- PROCESS/Dysplasia/aplasia (ex)
- PROCESS/Genetic disorder/Spontaneous mutations/sporadic
- PROCESS/Hereditofamilial (category)
- PROCESS/INCIDENCE/Rare disease (ex)
- PROCESS/Subsets/Variable dominance/sex linkage
- PROCESS/Dystostosis/craniofacial (ex)
- Synonyms
- Synonym
- Craniofrontonasal Syndrome (CFNS), Synonym/Frontonasal dysplasia syndrome, Synonym/Median cleft-face syndrome
- Definition
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Fontonasal dysplasia, coronal craniosynostosis, grooved nails, mild mental deficiency, and various skeletal and soft tissue abnormalities---------[Jablonski/NIH Archives 2007]----
(Edit)
- External Links Related to Craniofrontonasal Syndrome (CFNS)
- 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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