Disease Information for Schwartz-Jampel syndrome: Clinical Manifestations

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Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Hypomimia/Lack of facial expression
Myopathic facies/snarling smile
Pouting expression
Small fixed facial features
Tonic contracture of face muscles
Hirsutism
Hypertrichosis
Small testes
Testes/small firm
Choking
Dysphagia Cold liquids
Feeding/swallowing difficulties/infant
Drooling
High arched palate
Microstomia/Small mouth
Narrow oral aperture/small mouth opening
Pursed puckered mouth/smile
Flexion contractures/extremities
Hypertonia
Muscle hypertrophy
Muscle weakness
Myotonic like rigidity of muscles
Percussion myotonia/delayed sign
Stiffness
Hyperreflexia/DTRs increased
Mental Deficiency Child
Speech Locution Problems
Waddling Trendelenberg Gait
Ankle valgus sign
Bowing of extremities
Cervical kyphosis sign
Crouched stance
Decreased Knee range of motion
Dysmorphic dwarfism/short stature
Hip abduction ROM limited
Joint/limit range of motion
Knee contractures
Lumbar lordosis/excess
Ortolani's sign/Hip poor abduction
Sternum deformities
Stiffness of joints
Widening of Knee Bones
High-pitched voice
Dysmorphic appearance/face
Growth/development delay
Short stature
Short stature Child
Weakness
Blepharophimosis/Short palpebral fissures
Contracted lateral palpebral fissure
Vision Loss
Ear deformitry/partially snipped pinna
Folded helices ear deformity/lop ear
Low set ears/congenital
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Presentation/Myotonia Dwarfism Chondrodystrophy Eye Face Anomalies
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset ages 2 to 3 yrs
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