Stueve-Wiedemann syndrome (SWS); Schwartz-Jampel syndrome type 2 (SJS2)

Pathology

• bone dysplasia, bowing of the lower limbs
• internal cortical thickening
• wide metaphyses with abnormal trabecular pattern

Genetics

• autosomal recessive
• associated with defects in LIFR

Clinical manifestations

• bowing of the lower limbs
• camptodactyly
• feeding & swallowing difficulties
• respiratory distress
• hyperthermic episodes, which cause death in the first months of life
• rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints & dysautonomia symptoms, including temperature instability, absent corneal & patellar reflexes, & smooth tongue

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/601559