Disease Information for Velocardiofacial (22q gene) syndrome: Clinical Manifestations

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Signs & Symptoms
Particular physiognomy/Odd looking kids
Bulbous nose/congenital
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Facial Asymmetry
Facies particular
Flat cheeks deformity/congenital
Long Philtrum/Facies
Nasal Alar thinning
Prominent Nose
Thin upper lip
Dysphagia Swallowing Difficulties
Lax abdominal muscles
Poor weight gain/child
Absent tonsils/infant
Narrow oral aperture/small mouth opening
Receding chin deformity
Uvula anomaly/deformity
Hyperextensible digits
Hypotonia
Tapered fingers
Behavior problems
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Mental Deficiency Child
Slow Motor Development
Behavior characteristic/oppositional/rigid/stubborn
Compulsive behavior
Destructive Behavior
Psychomotor retardation
Stubborn
Head size/circumference small/sign
Long thin fingers/toes (arachnodactyly)
Macrocephaly/Large head
Megalocephaly
High-pitched voice
Narrow Nostrils
Snoring
Dysmorphic appearance/face
Lateral Asymmetry
Short stature
Short stature Child
Almond shaped eyes
Lagophthalmos/Unable to Close Eyelids
Narrow Palpebral Fissures
Retinal veins tortuous/distended
Small optic disks
Low set ears/congenital
Clinical Presentation & Variations
Presentation/Clinical Features Variable Multisystem
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
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