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Disease Information for Reiger Syndrome

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: Be the first to add a definition for Reiger Syndrome
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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