Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Abstract

Stüve-Wiedemann syndrome is a rare autosomal recessive disorder characterized by bowed long bones, joint restrictions, dysautonomia, and respiratory and feeding difficulties, leading to death in the neonatal period and infancy in several occasions. Since the first cases in 1971, much has been learned about this condition, including its molecular basis - mutations in the leukemia inhibitory factor receptor gene (LIFR) -, natural history and management possibilities. This review aims to highlight the clinical aspects, radiological features, molecular findings, and management strategies in Stüve-Wiedemann syndrome.

Nuclear FGFR2 regulates musculoskeletal integration within the developing limb

“…Bent long bones in the legs are a relatively common finding in skeletal birth defects, with more than 40 distinct disorders being associated with bent femurs (Alanay et al, ). Despite genetic heterogeneity in bent bone disorders, clinical evidence suggests that long bone bending results from a combination of poor bone material properties and altered muscle forces (Alanay et al, ; Begam et al, ; Basiri et al, ; Romeo Bertola et al, ). Osteogenesis imperfecta caused by COL1A1 and COL1A2 mutations is characterized by weakened bone strength with reduced muscle size and function (Sykes et al, ; Phillips and Jeong, ).…”

“…Osteogenesis imperfecta caused by COL1A1 and COL1A2 mutations is characterized by weakened bone strength with reduced muscle size and function (Sykes et al, ; Phillips and Jeong, ). Similarly, Stüve‐Wiedemann syndrome exhibits osteopenia and myotonia due to mutations in LIFR (Begam et al, ; Mikelonis et al, ; Basiri et al, ; Romeo Bertola et al, ).…”

“…Phillips and Jeong, 2018). Similarly, Stüve-Wiedemann syndrome exhibits osteopenia and myotonia due to mutations in LIFR (Begam et al, 2011;Mikelonis et al, 2014;Basiri et al, 2015;Romeo Bertola et al, 2016).…”

LIF and the lung’s Stem Cell Niche: is Failure to Use LIF to Protect Against COVID-19 a Grave Omission in Managing the pandemic?

“…LIF’s property of ‘stemness’ operates throughout life supporting adult stem cells and precursor cells, including the stem cell niche of the lung’s blood–air barrier. Notably, in human, lack of LIF signaling results in ‘Stuve–Wiedemann syndrome’, a rare genetic disorder where infants may succumb to respiratory distress by around 3 months of age [ 5 ].…”

Neuropathies of Stüve-Wiedemann Syndrome due to mutations in leukemia inhibitory factor receptor (LIFR) gene

“…SP: signal peptide; CRH1 and CRH2: cytokine receptor homology domains 1 and 2, Ig: Immunoglobulin-like domain; FNIII: fibronectin type III domain (433-530; 541-623; 729-821); TM: transmembrane domain (834-858); CD: cytoplasmic domain. Mutations observed in STWS patients are illustrated above the gene model 86 and the normal variations within the LIFR gene are indicated below the gene model 87 . Currently, no pattern has emerged for the symptoms experienced by STWS patients and their specific mutation.…”