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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
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 601559
References
UniProt :accession P42702