Disease Information for Meckel-Gruber syndrome

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Clinical Manifestations
Signs & Symptoms
Flat/Sloping forehead
Uvula anomaly/deformity
Bowing of extremities
Foot deformity
Sudden death of an infant
Narrow Palpebral Fissures
Clinical Presentation & Variations
Presentation/Kidney malformations Congenital syndrome Child
Disease Progression
Course/Chronic only
Course/Lethal
Demographics & Risk Factors
Ethnic or Racial Factors
Arab/population
Finnish population
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
Pathology
PATH/Occipital encephalocele/fetus
Associated Diseases & Rule outs
Associated Disease & Complications
Cataract
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Clubbed foot/congenital
Congenital anomalies
Death Newborn/Perinatal
Genital anomalies/caused
Infantile Polycystic kidney disease
Limb deformities/anomalies
Meckel-Gruber syndrome
Meningoencephalocele
Microcephaly/oligophrenia
Microphthalmos
Polycystic kidney disease
Polydactyly/Supernumery digits
Recurrent GI Bleeding
Renal cyst
Stillborn
Sudden death/Child
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Fetal/conceptual products (category)
CLASS/Intestinal/stomach/gut (category)
Pathophysiology
Pathophysiology/Gene locus chromosome 12
Pathophysiology/Gene locus chromosome 12q
Pathophysiology/Gene locus Chromosome 17q
Pathophysiology/Gene locus Chromosome 8q
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/MKS1 Gene Mutation
Pathophysiology/MKS2 Gene Mutation
Pathophysiology/Gene locus chromosome 8
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Lethal perinatal/Incompatible with survival
Synonyms
Synonym
Meckel Gruber syndrome, Synonym/Dysencephalia splanchnocystica, Synonym/Meckel syndrome
Treatment
Other Treatments
TX/Genetic counselling
Definition

Meckel Syndrome; Dysencephalia Splanchnocystica ; Gruber Syndrome; MES; MKS; Meckel-Gruber Syndrome; Disorder Subdivisions: ;Meckel Syndrome Type 1;Meckel Syndrome Type 2 ;Meckel Syndrome Type 3; Meckel syndrome is a rare inherited disorder characterized by abnormalities affecting several organ systems of the body (multisystem); Three classic symptoms are normally associated with Meckel syndrome: protrusion of a portion of the brain and its surrounding membranes (meninges) through a defect in the back or front of the skull (occipital encephalocele), multiple cysts on the kidneys (polycystic kidneys), and extra fingers and/or toes (polydactyly); Affected children may also have abnormalities affecting the head and face (craniofacial area), liver, lungs, and genitourinary tract; Meckel syndrome is inherited as an autosomal recessive trait--------[nord 2005]------------------

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External Links Related to Meckel-Gruber syndrome
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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)
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