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Disease Information for Schwartz-Jampel syndrome: Clinical Manifestations

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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