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Disease Information for Marshall syndrome

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

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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