Disease Information for Pierre Robin syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facial/triangular/small physiognomy
Facies particular
Facies/Micrognathia/glossoptosis/cleft soft palate
Anorexia in Infant
Choking
Dysphagia Swallowing Difficulties
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Feeding/Apetite Problems Child
Feeding/swallowing difficulties/infant
Glossoptosis/displaced downward
Glossoptosis/Swallowing tongue
Natal teeth/newborn
Prolapsing tongue
Receding chin deformity
Uvula anomaly/deformity
Webbed fingers
Mental Deficiency Child
Expiratory stridor or stertor
Difficult intubations/anatomic
Snoring
Stridor (Inspiratory noise)
Stridor infant Child
Dysmorphic appearance/face
Episodic symptoms/events
Near death experience/infant/SIDS survivor
Blue Sclera
Narrow Palpebral Fissures
Clinical Presentation & Variations
Presentation/Death in infancy
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
X-RAY
Xray/Jaw/mandible abnormality
Associated Diseases & Rule outs
Associated Disease & Complications
Asphyxia/suffocation
Aspiration
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Congenital glaucoma
Congenital heart disease
Death Newborn/Perinatal
Death/Unanticipated
Glaucoma
Limb deformities/anomalies
Mandible hypoplasia/Retrognathia
Mental retardation
Micrognathia/congenital small chin
Microphthalmos
Myopia
Obstructive sleep apnea/Children
Pierre Robin syndrome
Pneumonia, aspiration
Stickler syndrome
Syndactyly/Webbing
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Area specific/facial/head/neck (category)
CLASS/Faces-cranio online database (ex)
CLASS/Facial area manifestation/disorder (ex)
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Gene locus 2q32.3-33.2
Pathophysiology/Gene locus Chromosome 2
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
GLOSSOPTOSIS MICROGNATHIA AND CLEFT PALATE, Micrognathia glossoptosis syndrome, Piere Robin syndrome, Pierre Robin, Pierre Robin association, Pierre Robin sequence, Pierre Robin syndrome, Pierre Robin's syndrome, Robin, Robin sequence, Robin sequence (disorder), Robin Syndrome Pierre, Robin's anomalad, Robin's syndrome, syndrome micrognathia glossoptosis, Syndrome Pierre Robin, Synonym/Glossoptosis-micrognathia-cleft palate, Synonym/Robin syndrome
Treatment
Drug Therapy - Indication
SX/Plastic/Facial Surgery
SX/Tracheotomy
Definition

Pierre Robin Sequence; Glossoptosis, Micrognathia, and Cleft Palate; Pierre Robin Anomalad; Pierre Robin Complex; Pierre Robin Deformity; Pierre Robin Syndrome; Pierre Robin Triad; Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis); Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and hard palate can be affected--------- [NORD 2005]-----------

A very rare congenital malformation syndrome characterized by unusual smallness of the jaw combined with cleft palate, downward displacement of the tongue, and an absent gag reflex; The affected child is in serious danger because of difficulty in breathing and feeding; The abnormality may occur in isolation or as a variable component of many genetic syndromes; Inheritance is autosomal recessive [whonamedit_com 2005]

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External Links Related to Pierre Robin 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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