Disease Information for Craniofrontonasal Syndrome (CFNS)

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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

Fontonasal dysplasia, coronal craniosynostosis, grooved nails, mild mental deficiency, and various skeletal and soft tissue abnormalities---------[Jablonski/NIH Archives 2007]----

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External Links Related to Craniofrontonasal Syndrome (CFNS)
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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