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GENATLAS PHENOTYPE
last update : 05-11-2020
Symbol SWS
Location 5p13.1
Name Stuve-Wiedemann syndrome
Other name(s) Schwartz-Jampel type 2 syndrome, neonatal
Corresponding gene LIFR
Other symbol(s) STWS
Main clinical features
  • including congenital bowing long bones, camptodactyly and contactures, respiratory distress, feeding difficulties and hyperthermic episodes, often early lethality, with radiographically cortical thickening of the long bones with flared and coarsened trabecular pattern metaphyses
  • also forms that phenocopy hereditary sensory and autonomic neuropathies (HSANs) due to the marked pain insensitivity phenotype and progressive bone destruction (PMID: 26285796))
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name leukemia inhibitory factor receptor
    Remark(s)