Long-term survival in Stuve-Wiedemann syndrome: A neuro-myo- skeletal disorder with manifestations of dysautonomia

Maja Di Rocco, G. Stella, C. Bruno, L. Doria Lamba, M. Bado, A. Superti-Furga

Research output: Contribution to journalArticlepeer-review


Stuve-Wiedemann syndrome (SWS) is a multiple congenital anomalies syndrome mostly considered to have an early lethality. Only few patients have been reported with long survival; therefore, the clinical phenotype with age has not yet been clearly characterized. We report on two patients with SWS aged 12 and 3 years who have both the osteodysplastic symptoms of the entity as well as autonomic nervous system symptoms resembling familial dysautonomia: lack of corneal reflex and neuropathic keratitis, absence of fungiform papillae, ulcerations of the tongue, paradoxical sweating at low temperature, patellar hyporeflexia, and progressive scoliosis. The clinical and radiological similarities between patients with SWS and patients with Schwartz-Jampel syndrome have led to the suggestion that these two syndromes are a single entity. SWS and Schwartz-Jampel syndrome type II are now indeed considered to be identical, but the radiographic phenotype of SWS long survivors such as the presently reported patients justifies the distinction between SWS and the classical type of Schwartz-Jampel syndrome. An increased number of lipid droplets in muscle fibers and decreased muscle mitochondrial enzyme activities have been found in one patient, confirming a previously reported association between SWS and respiratory chain abnormalities.

Original languageEnglish
Pages (from-to)362-368
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume118 A
Issue number4
Publication statusPublished - May 1 2003


  • Dysautonomia
  • Long-term survival
  • Mitochondrial defect
  • Stuve-Wiedemann syndrome

ASJC Scopus subject areas

  • Genetics(clinical)


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