Disease Information for 18p chromosome deletion complex

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Clinical Manifestations
Signs & Symptoms
Congenital low hairline
Particular physiognomy/Odd looking kids
Broad flat nose/facies
Craniofacial Abnormalities/Congenital
Downturned corners of mouth/Carp mouth
Holoprosencephaly
Webbed neck deformity/Broad neck
Teeth malformed/dysplastic
Dystonia
Laryngeal dystonia
Mental Deficiency Child
Odd body posturing
Spasms in Neck
Enlarged labia majora
Labia hypertrophy/female
Snoring
Ptosis (blepharoptosis)
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Young Adult
Sex & Age Groups
Population/Child
Population/Children/all
Population/Infant
Population/Young adult
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
Diagnostic Test Results
CT Scan
MRI/Head Brain Abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Brachycephaly
Cataract
Congenital anomalies
Cyclops deformity
Dental deformities/anomalies
Facial dysplasia
Gut Anomalies
Mental retardation
Microcephaly/oligophrenia
Microphthalmos
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Pectus excavatum
Torsion dystonia
Torticollis, acquired
Torticollis
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Chromosome gene/segment deletion (ex)
Pathophysiology/Gene locus Chromosome 18
Pathophysiology/Gene locus Chromosome 18p
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Dystostosis/craniofacial (ex)
Treatment
Drug Therapy - Indication
RX/No effective/definitive treatment yet available
Definition

18p Deletion or DNA distortion/mutation usually shows as dystonia; Congenital deformity with developmental brain anomalies; primary idiopathic torsion dystonia or sporatic adult onset dystonia; usually focal or segmental dystonia at onset; hereditary variants with autosomal dominance; starts in one limb

Deletion of the short arm of chromosome 18- It is one of the most fre quently occurring chromosomal aberrations with minimal abnormalities visible at birth, which become more apparent at the age of three years; The phenotype is marked mainly by holoprosencephaly, brachycephaly, broad facies, blepharoptosis, downturned corners of the mouth, tooth abnormalities, broad neck with low posterior hairline, funnel chest, enlarged labia majora, hand abnormalities, mental retardation ranging from mild to severe, and other malformations; The phenotype varies from case to case, frequently reflecting the length and type of deletion: del(18p) mosaicism is associated with abnormalities which are similar to those in del(18p) and include microphthalmia and cataract and cyclopia may occur in del(18p) in mosaicism with dup(18p)

[Jablonski/NIH archives 2007]

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External Links Related to 18p chromosome deletion complex
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Wikipedia
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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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