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
Equinus Posture/Ankles
Gait disturbance/abnormality
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 in Children
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