Disease Information for Craniofacial dysostosis/Crouzon

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Sunken Cheek Bones
Drooling
Hypoplasia Narrow Maxilla
Headache
Idiocy/signs
Mental Deficiency Child
Papilledema on exam
Acrocephaly
Asymmetric Limbs
Bossing forehead,infants
Cranial asymmetry
Dysmorphic dwarfism/short stature
Nose blocked/stuffy
Runny nose/rhinorrhea
Snoring
Stridor (Inspiratory noise)
Stridor infant Child
Dysmorphic appearance/face
Lateral Asymmetry
Short stature
Short stature Child
Bloodshot eyes/Conjunctival injection
Blue Sclera
Blurred Optic Disk Margin
Eyelid Retraction
Proptosis,bilateral
Red Eyes Bilateral
Scleral Injection
Shallow orbits
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
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
Other Tests & Procedures
Lumbar puncture/Increased CSF pressure/LP test
X-RAY
Xray/Frontal bossing, infant/Skull
Xray/Parietal bossing/Skull
Xray/Skull abnormality
Associated Diseases & Rule outs
Associated Disease & Complications
Airway obstruction/Children
Blind external ear canals/microtia deformity
Blindness
Blindness in Children
Cataract
Coarctation of aorta
Congenital heart disease
Corpus callosum defect/agenesis
Craniofacial dysostosis/Crouzon
Craniosynostosis
Deafness, congenital
Exophthalmos
Exotropia
External Auditory Meatus Closure
Hydrocephalus, chronic acquired
Hypertelorism/Wide Spaced Eyes
Mental retardation
Nasal obstruction
Oral Cavity Anomalies
Otitis media, acute
Otitis media, chronic
Patent ductus arteriosis
Strabismus
Ineffective Cough or Reflex
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Faces-cranio online database (ex)
CLASS/Facial area manifestation/disorder (ex)
CLASS/Neurologic (category)
CLASS/Facial bones involvement/disorder (ex)
CLASS/Skeletal (category)
CLASS/Skull disorder (ex)
Pathophysiology
Pathophysiology/Asymmetric deformities
Pathophysiology/Gene locus 10q26
Pathophysiology/Gene locus Chromosome 10
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Congenital facial dysplasia/dysostosis
Pathophysiology/CSF Pressure Increased
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary dominance/incomplete penetrance (ex).
PROCESS/Hereditofamilial (category)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Congenital CNS disorder (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Acrocephalosyndactyly, type II, Apert Crouzon syndrome, CFD1, craniofacial dysarthrosis, Craniofacial Dysostoses, craniofacial dysostosis, Craniofacial dysostosis syndrome, CRANIOFACIAL DYSOSTOSIS, TYPE I, Crouzon, CROUZON CRANIOFACIAL DYSOSTOSIS, CROUZON DIS, Crouzon Disease, CROUZON SYNDROME, Crouzon syndrome (disorder), CROUZONS DIS, Crouzons Disease, Crouzon's disease, Crouzon's syndrome, Disease, Crouzon, Disease, Crouzon's, Dysostoses, Craniofacial, dysostosis craniofacial, Dysostosis, Craniofacial, Trigorhinophalangeal dysplasia, Vogt cephalosyndactyly, Synonym/Crouzon's disease, Synonym/Oxycephaly-Acrocephaly, Synonym/Virchow's Oxycephaly
Definition

Crouzon"s syndrome; Dysostosis craniofacialis, dysostosis craniofacialis hereditaria, dysostosis cranio-orbitofacialis; Craniostosis with widening of the skull and high forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla; Crouzon first described the disturbance in a mother and a son with abnormal facial features presented to the Medical Society of Paris; Three years later he described a second kindred, in which seven persons in successive generations were affected; Inheritance is autosomal dominant---------whonamedit_com 2005]------------------

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External Links Related to Craniofacial dysostosis/Crouzon
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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