Disease Information for Acrocallosal syndrome (ACS)

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Anteverted Nares deformity
Broad flat nose/facies
Craniofacial Abnormalities/Congenital
Prominent forehead/High forehead
Short Philtrum/Facies
Short upper lip
Blond hair patient
Curly Hair
Lax abdominal muscles
High arched palate
Bifid thumb deformity
Hypotonia
Tapered fingers
Mental Deficiency Child
Seizures
Macrocephaly/Large head
Megalocephaly
Postaxial polydactyly
Prominent /protruding Occiput
Nose short/upturned
Downward sloping eyes/Antimongoloid slant
Epicanthal folds
Eyelid Retraction
Proptosis,bilateral
Low set ears/congenital
Low set/odd position ears
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Children/all
Diagnostic Test Results
Pathology
PATH/Brain corpus callosum lesion/defect
CT Scan
CT Scan/Head Brain/Corpus callosum hypoplasia/agenesis
Associated Diseases & Rule outs
Associated Disease & Complications
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Congenital urinary tract malformations
Corpus callosum defect/agenesis
Ear deformities/congenital
Exophthalmos
Exotropia
Hypertelorism/Wide Spaced Eyes
Hypogonadism, male
Hypospadius anomaly
Inguinal Hernia
Limb deformities/anomalies
Mental retardation
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Polydactyly/Supernumery digits
Secondary female hypogonadism
Umbilibal Anomalies
Umbilical hernia
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Corpus callosum defect/agenesis
Pathophysiology
Pathophysiology/Secondary Testicular Failure
Pathophysiology/Corpus callosum defect
Pathophysiology/Maternal Chromosome mutation
Pathophysiology/Postaxial limb deficiency/phocomelia
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (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/Schinzel Syndrome 1
Definition

Absence of the corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces, and polydactyly----[Jablonski/NIH Anomaly Archive]----------

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External Links Related to Acrocallosal syndrome (ACS)
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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