Disease Information for Porteous Syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Prominent forehead/High forehead
Baldness/Alopecia
Hair loss
Non-scarring Alopecia/balding
Receding hairline
Poor weight gain/child
Mental Deficiency Child
Psychomotor retardation
High-pitched voice
Short stature
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Population Group
Infant
Sex & Age Groups
Population/Child
Population/Infant
Population/Infant male
Population/Male
Population/Male-only/limit
Associated Diseases & Rule outs
Associated Disease & Complications
Alopecia, congenital
Growth retardation/failure
Mental retardation
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Process
PROCESS/Constitutional/essential disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Phakomatosis/congenital (ex)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
PROCESS/Dystostosis/craniofacial (ex)
Definition

x linked mental retardation; chromosome X centromeric zone; high pitch voice, mental retarded, high forehead, alopecia, receding hairline familial male children carried through female line; peculiar facies [jablonski database 2007]

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External Links Related to Porteous 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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