Disease Information for Beckwith-Wiedemann Syndrome: Clinical Manifestations

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Signs & Symptoms
Hyperextensable Joints Infant
Macrosomia
Facial Asymmetry
Facial hemihypertrophy
Sunken Cheek Bones
Accessory nipples
Cardiomegaly/Heart dilatation
Port wine Stain Birthmark
Accelerated growth Child
Increased body length/newborn
Large baby/birth weight increased
Genitalia overgrowth/infant
Abdominal Mass
Abdominal Wall Defects
Everted umbilicus/prominent
Lax abdominal muscles
Hypoplasia Narrow Maxilla
Large tongue/macroglossia
Oral submucosal clefts
Tongue Protrudes Infant
Hepatosplenomegaly
Palpable Liver/Hepatomegaly
Delay Sitting Unsupported Infant
Hypotonia
Mouth Hangs Open Infant
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Babkin infant sign/Abnormal
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Infant Head Support Delay
Intelligence normal
Mental Deficiency Child
Moro reflex Poor/Absent Infant
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Progressive enlargement of Skull/infant
Rooting infant sign/Abnormal
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Difficulty learning/school/workplace
Asymmetric Limbs
Cranial sutures ridging
Finger contractions/flexion (clinodactyly)
Metopic sutures hypoplastic ridging
Sternum deformities
Tall child
Snoring
Splenomegaly
Dysmorphic appearance/face
Lateral Asymmetry
Tall Adult
Eyelid Retraction
Proptosis,bilateral
Asymmetric earlobes
Characteristic ear lobe crease
Ear lobe crease/Emperor Hadrian sign
Pits in Pinna/Congenital
Clinical Presentation & Variations
Presentation/Omphalocele Macroglossia Large neonate Hypoglycemia
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Prognosis bad/usually
Course/Untreated mortality high
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