Schwartz-Jampel Type 2/Stuve-Wiedemann syndrome (SWS)
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Overview
From WUSTL Neuromuscular● LIFR genetics: Null mutations LIF receptor protein Binds several cytokines LIF OSM Ciliary neurotrophic factor (CNTF) Cardiotrophin 1 Neurotrophin-1/B-cell stimulating factor 3 Related proteins causing syndromes Cold-induced sweating 1 (Crisponi) Cold induced sweating 2 Clinical Onset age: Birth Congenital features Hypotonia Respiratory & feeding difficulties Hyperthermic episodes High mortality in infancy Skeletal Joint contractures Bent bone dysplasia: Campomelic-metaphyseal (Like Pyle disease ) Bowing of lower limbs Internal cortical thickening Wide metaphyses: Abnormal trabecular pattern
OMIM Entries
External Resources
Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.