Disease Information for Treacher Collins syndrome: Clinical Manifestations

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Signs & Symptoms
Particular physiognomy/Odd looking kids
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Facies particular
Facies/Pinna/Malar/lid notch/deformed/reverse eye slant/deafness
Flat cheeks deformity/congenital
Flat/Sloping forehead
Narrow face/sign
Nasal Alar thinning
Nasal frontal angle flat
Supraorbital bony deformities/congenital
Infant/episodic cyanosis
Congenital low sideburns
Hair line low
Feeding/swallowing difficulties/infant
Excess salivation/hypersalivation
Fish-shaped mouth deformity
High arched palate
Infant/loss of sucking response
Large mouth/macrostomia
Microstomia/Small mouth
Receding chin deformity
Sialorrhea/Ptyalism
Intelligence normal
Mental Deficiency Child
Nasal speech/regurgitation
Newborn Poor Sucking response/reflex
Joint deformities
Difficult intubations/anatomic
Narrow Nostrils
Narrow peaked nasal bridge deformity
Nasal/Hyponasal sound to voice
Nose blocked/stuffy
Runny nose/rhinorrhea
Snoring
Sudden death of an infant
Downward sloping eyes/Antimongoloid slant
Notching outer lower eyelids
Anomalous ears/deformities
Low set ears/congenital
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
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