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Stüve-Wiedemann syndrome

Orpha number ORPHA3206
Synonym(s) Stüve-Wiedemann dysplasia
Prevalence Unknown
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q78.8
OMIM
UMLS
  • C0432240
  • C0796176
MeSH
  • C537502
MedDRA -
SNOMED CT
  • 254097005

Summary

Stüve-Wiedemann syndrome (SWS) is a congenital bone dysplasia characterised by small stature, congenital bowing of the long bones and campodactyly. It is a rare syndrome with few cases reported in the literature. Patients present with serious complications including respiratory distress and recurrent episodes of unexplained hyperthermia. Radiographic studies reveal short and broad long bones, large metaphyses, internal cortical thickening, and angulation primarily of tibiae and femora, but also of humeri and forearm bones. The condition is transmitted as an autosomal recessive trait and is caused by null mutations in the leukaemia inhibitory factor receptor (LIFR) gene located on chromosome 5p13. The mutations lead to modifications in the stability of the LIFR transcripts, inhibiting synthesis of the LIFR protein and resulting in alterations in the JAK/STAT3 signalling pathway. The majority of patients die during the neonatal period as a result of respiratory distress or a hyperthermic episode. However, rare cases of survival beyond the first year of life have been reported. These patients show a characteristic phenotype that includes progressive scoliosis, spontaneous fractures, lack of corneal and patellar reflexes, smooth tongue and neurological symptoms reminiscent of dysautonomia. At present, treatment is symptomatic only.


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Detailed information

Review article
  • EN (2014)
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