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Disease Processes ▼
- Auto Immune
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Major Organs-Systems ▼
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Disease Information for Porteous Syndrome
- 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
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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
- Wikipedia
- Merck
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- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)