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Disease Information for Craniofacial dysostosis/Crouzon

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

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

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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(Edit)

External Links Related to Craniofacial dysostosis/Crouzon

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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