Disease Information for Weaver syndrome (Marshall-Smith): Clinical Manifestations

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Signs & Symptoms
Contractures Fingers/Toes
Anteverted Nares deformity
Broad flat nose/facies
Craniofacial Abnormalities/Congenital
Hypoplastic facial bones
Long Philtrum/Facies
Small face
Accessory nipples
Inverted nipples
Excess loose skin/child
Hirsutism
Hypertrichosis
Accelerated growth Child
Large baby/birth weight increased
Appetite increased
Excessive appetite/child
Lax abdominal muscles
Polyphagia
High arched palate
Receding chin deformity
Camptoldactyly
Hypotonia
Prominent finger pads
Thin deep-set nails
Mental Deficiency Child
Seizures
Psychomotor retardation
Bifid xiphoid process
Broad thumb sign
Decreased Knee range of motion
Finger contractions/flexion (clinodactyly)
Fingers stiff/limited motion
Foot deformity
Knee contractures
Macrocephaly/Large head
Megalocephaly
Metatarsal Adductus
Pes Calcaneovalgus
Sternum deformities
Tall child
Wide proximal phalanges
Widening of Knee Bones
Deepening of voice/Low voice
Hoarseness
Accelerated growth rate child/below age five
Tall Adult
Tall/thin habitus/long body/Marfanoid
Blue Sclera
Downward sloping eyes/Antimongoloid slant
Prominent eyes
Ptosis (blepharoptosis)
Shallow orbits
Big ears
Prominent Ears
Typical Clinical Presentation
Presentation/Death in childhood
Clinical Presentation & Variations
Presentation/Recurrent respiratory infections
Disease Progression
Prognosis/Childhood-congenital early death usual
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