Disease Information for Acrocephalosyndactyly type III syndrome

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Clinical Manifestations
Signs & Symptoms
Congenital low hairline
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facial Asymmetry
Facies particular
Sunken Cheek Bones
Dermatoglyphic anomalies
High arched palate
Hypoplasia Narrow Maxilla
Webbed fingers
Intelligence normal
Mental Deficiency Child
Acrocephaly
Asymmetric Limbs
Broad great toes
Cranial asymmetry
Finger contractions/flexion (clinodactyly)
Fingers stiff/limited motion
Short fingers/toes (Brachydactyly)
Thin/beaked nose sign
Dysmorphic appearance/face
Lateral Asymmetry
Short stature
Short stature Child
Blepharophimosis/Short palpebral fissures
Downward sloping eyes/Antimongoloid slant
Ptosis (blepharoptosis)
Shallow orbits
Anomalous ears/deformities
Low set ears/congenital
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
Family History
Family history/Skeletal malformations
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
X-RAY
Xray/Enlarged sella/Head
Xray/Skull abnormality
Associated Diseases & Rule outs
Associated Disease & Complications
Blocked/obstructed tear duct
Brachycephaly
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Craniosynostosis
Deviated nasal septum
Elbow contractures
Hallux Valgus
Hypertelorism/Wide Spaced Eyes
Limb deformities/anomalies
Mental retardation
Strabismus
Syndactyly/Webbing
Webbed fingers or toes/congenital
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Faces-cranio online database (ex)
Pathophysiology
Pathophysiology/Asymmetric deformities
Pathophysiology/Chromosome 7 gene defect
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
acrocephalosyndactyly III, acrocephalosyndactyly III (ACS III), Acrocephalosyndactyly syndrome type III, Acrocephalosyndactyly type III, ACROCEPHALY SKULL ASYMMETRY AND MILD SYNDACTYLY, ACS III, ACS3, CHOTZEN SYNDROME, dysostosis craniofacialis with hypertelorism, Saethre Chotzen syndrome, Saethre Chotzen syndrome (disorder), Saethre Chotzen syndrome (SCS), SCS, Syndrome Saethre Chotzen, Synonym/Acrocephaly/skull asymmetry/mild retardation, Synonym/ACS type III, Synonym/Chotzen syndrome, Synonym/Saethre-Chotzen syndrome
Definition
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External Links Related to Acrocephalosyndactyly type III syndrome
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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