Stuve-Wiedemann syndrome
Overview
Stuve-Wiedemann syndrome, originally described in 1971, is a rare abnormality that belongs to the group of the bent-bone dysplasias and is haracterized by bowing of the lower limbs, with internal cortical thickening, wide metaphyses with abnormal trabecular pattern, and campodactyly. Additional features include feeding and swallowing difficulties, as well as respiratory distress and hyperthermic episodes, which cause death in the first months of life.
Symptoms
Affected infants may develop life-threatening complications such as episodes where there is a sudden rise in body temperature (hyperthermia) or respiratory distress. Stuve-Wiedemann syndrome is inherited as an autosomal recessive trait.
Causes
There is evidence that Stuve- Wiedemann/Schwartz-Jampel type 2 syndrome is caused by mutation in the leukemia inhibitory factor receptorene. The leukemia inhibitory factor receptor gene encodes a 1,097-amino acid transmembrane protein that is composed of 6 different domains: 2 ytokine receptor homology domains, 1 immunoglobulin-like domain, 1 type III fibronectin domain with 3 modules, 1 transmembrane domain, and 1 cytoplasmic domain. The leukemia inhibitory factor is a polyfunctional cytokine that affects the differentiation, survival, and proliferation of a wide variety of cells in the adult and the embryo