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Disease Information for Cockayne syndrome: Clinical Manifestations

Signs & Symptoms: Particular physiognomy/Odd looking kids
: Craniofacial Abnormalities/Congenital; Facial loss of adipose tissue; Facies particular; Facies/Bird like; Loss fatty deposits/facial area; Pinched/thin nose; Sun exposed areas/face, arms/involved
: Acrocyanosis/Cyanosis extremities; Child/Extremities cold/pale often cyanosed
: Gray Hair; Gray hair Childhood; Gray hair, premature; Hyperpigmented patches/sun exposed areas; Increased pigmentation/tanning/hyperpigmented; Mutilating/skin lesions/light exposed areas/face; Patchy pigmentation/face/neck/hands; Photosensitivity/Sunsensitive skin; Scaling/Skin finding; Silvery gray hair/child; Skin atrophy/Poikiloderma; Sunburns too easily; Telangiectasias in Children; Telangiectasias, skin; Thin hyperpigmented skin/facial; White Hair
: Anorexia in Infant; Failure to Thrive; Failure to Thrive Child; Failure to thrive/infant sign; Feeding/Apetite Problems Child
: Carious teeth/child; Carious teeth/sign; Large/protruding jaw/prognathism; Teeth malformed/dysplastic
: Palpable Liver/Hepatomegaly
: Cold hands/fingers and toes; Distal Muscle Weakness; Long legs
: Ataxia; Equinus Posture/Ankles; Gait disturbance/abnormality; Idiocy/signs; Intellectual Decline Children; Mental Deficiency Child; Mental/motor retardation in children/signs; Movement or gait disorder/signs; Progressive neurological disorder/signs; Spasticity/Spastic gait; Staggering Gait; Tremor; Tremor in Children; Tremor,coarse
: Barrel chest/Increased AP diameter
: Psychomotor retardation
: Dysmorphic dwarfism/short stature; Head size/circumference small/sign
: Odd sounding voice/husky; Voice change/disturbance/Unusual
: Dysmorphic appearance/face; Premature Aging; Short stature; Short stature Child
: Dry eyes/poor tearing; Dry eyes/Poor tearing in Children; Dryness Conjunctiva; Grainy/Gritty Eye Sensation
: Anomalous ears/deformities; Big ears; Prominent Ears; Protruberant/lop ears
Typical Clinical Presentation: Presentation/Normal infant/Severe hereditary disease
: Presentation/Coronary Heart Disease Young Age
Clinical Presentation & Variations: Presentation/Multiple deformities newborn (odd look)
: Presentation/Arteriosclerosis Young Age; Presentation/Myocardial Infarction in a Child
: Presentation/Growth Mental Development Slow 18 months; Presentation/Mental Retardation Progressive
: Presentation/Juvenile Cataract
Disease Progression: Course/Chronic disorder; Course/Chronic only; Course/Life-span decreased; Course/Prognosis bad/usually; Course/Progressive

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