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Disease Information for Pierre Robin syndrome
- 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
- 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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