Disease Information for Marshall syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Cyclic Periodic Recurrent Fevers
Dysmorphic appearance/face
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Associated Diseases & Rule outs
Associated Disease & Complications
Deafness
Deafness, congenital
Deafness, sensorineural
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Area specific/facial/head/neck (category)
CLASS/Facial area manifestation/disorder (ex)
CLASS/Dermatologic/Subcutaneous (category)
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/Gene locus 1p21
Pathophysiology/Gene locus Chromosome 1
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Facial dysplasia syndrome
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Marshall syndrome, Synonym/Ectodermal dysplasia, atypical
Definition

A syndrome of overgrowth of prenatal onset, advanced bone age, retarded psychomotor development, widened distal long bones, camptodactyly, and distinctive craniofacial appearance marked by large ears, broad forehead, hypertelorism, and long philtrum;

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Marshall Syndrome; Deafness-Myopia-Cataract-Saddle Nose, Marshall Type; Marshall Syndrome is a rare genetic disorder; Major symptoms may include a distinctive face with a flattened nasal bridge and nostrils that are tilted upward, widely spaced eyes, nearsightedness, cataracts and hearing loss; Marshall Syndrome is inherited as an autosomal dominant trait----------[NORD]---------------------

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External Links Related to Marshall 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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