Disease Information for Reiger Syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Broad flat nose/facies
Face broad/flat midface
Flat cheeks deformity/congenital
Midfacial hypoplasia/flat face dysmorphism
Prominent supraorbital ridges
Sunken Cheek Bones
Fetal Growth Rate Slowing
Everted umbilicus/prominent
Hypoplasia Narrow Maxilla
Large/protruding jaw/prognathism
Missing teeth/Aplastic
Small teeth/microdontia/pegs
Mental Deficiency Child
Finger contractions/flexion (clinodactyly)
Short fingers/toes (Brachydactyly)
Short stature
Short stature Child
Iris hypoplasia
Clinical Presentation & Variations
Presentation/Broad flat midface Nasal bridge Protruding jaw
Associated Diseases & Rule outs
Associated Disease & Complications
Axenfeld disease/iris
Congenital heart disease
Congenital/developmental dentition abnormalities
Dental deformities/anomalies
Eye Anomalies
Glaucoma
Mental retardation
Multiple Congenital Anomalies
Posterior Embryotoxon
Reiger Syndrome
Renal anomalies
Umbilibal Anomalies
Umbilical hernia
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Facial bones involvement/disorder (ex)
Pathophysiology
Pathophysiology/Gene locus 13q14
Pathophysiology/Gene locus 4q25-q27
Pathophysiology/Gene locus Chromosome 13
Pathophysiology/Gene locus chromosome 13q
Pathophysiology/Gene locus/Chromosome 4
Pathophysiology/Sporadic/hereditary/process
Pathophysiology/Gene mutation G551D
Pathophysiology/Gene mutation PITX2
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
Definition
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External Links Related to Reiger 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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