Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant

Jorcyk

2016

J Neurol Neuromedicine

Stüve-Wiedemann syndrome (STWS; OMIM #610559) is a rare disease that results in dysfunction of the autonomic nervous system, which controls involuntary processes such as breathing rate and body temperature. In infants, this can result in respiratory distress, feeding and swallowing difficulties, and hyperthermic episodes. Individuals may sweat excessively when body temperature is not elevated. Additionally, individuals have reduced ability to feel pain and may lose reflexes such as the corneal reflex that normally causes one to blink, and the patellar reflex resulting in the knee-jerk. STWS usually results in infant mortality, yet some STWS patients survive into early adulthood. STWS is caused by a mutation in the leukemia inhibitory factor receptor (LIFR) gene, which is inherited in an autosomal-recessive pattern. Most LIFR mutations resulting in STWS cause instability of the mRNA due to frameshift mutations leading to premature stop codons, which prevent the formation of LIFR protein. STWS is managed on a symptomatic basis as no treatment is currently available.

Section: Clinical Manifestationsmentioning

confidence: 99%

Section: Genetic Etiologymentioning

confidence: 99%

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

Jorcyk

2016

J Neurol Neuromedicine

“…Figure 1 shows an individual at ten months of age, who was later diagnosed with STWS. Most individuals suffering from STWS do not survive beyond the first few months of life due to respiratory distress, difficulties with feeding and swallowing, or hyperthermic episodes [ 1 , 7 , 10 , 12 , 13 , 17 - 19 ]. Patients that do survive show an improvement in prognosis as a normal breathing rhythm is established and the ability to swallow is gained, yet difficulties with swallowing can still occur later in childhood [ 13 ].…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology

Mikelonis

Jorcyk

Tawara

et al. 2014

Orphanet J Rare Dis

Stüve-Wiedemann syndrome (STWS; OMIM #610559) is a rare bent-bone dysplasia that includes radiologic bone anomalies, respiratory distress, feeding difficulties, and hyperthermic episodes. STWS usually results in infant mortality, yet some STWS patients survive into and, in some cases, beyond adolescence. STWS is caused by a mutation in the leukemia inhibitory factor receptor (LIFR) gene, which is inherited in an autosomally recessive pattern. Most LIFR mutations resulting in STWS are null mutations which cause instability of the mRNA and prevent the formation of LIFR, impairing the signaling pathway. LIFR signaling usually follows the JAK/STAT3 pathway, and is initiated by several interleukin-6-type cytokines. STWS is managed on a symptomatic basis since there is no treatment currently available.

“…Stüve–Wiedemann syndrome (SWS; OMIM601559) is a rare disorder originally described in 1971 by Stüve and Wiedemann (1). It is characterized by bowing of the long bones with internal cortical thickening, contractures of the large joints and camptodactyly (1–3). The clinical course is complicated by hyperthermic episodes, respiratory insufficiency with feeding and swallowing difficulties.…”

Section: Stüve–wiedemann Syndromementioning

confidence: 99%

“…This probably is related to pharyngoesophageal dyskinesia that results from an abnormal autonomic control of the anterior rami of cervical roots C1–C5 (13). Another cause of death in patients with SWS during the neonatal period is pulmonary hypertension due to arterial wall abnormalities (14) and pulmonary hypoplasia (3, 13).…”

Section: Clinical Features and Course: Literature And Personal Experimentioning

confidence: 99%

Stüve–Wiedemann syndrome and related bent bone dysplasias

Akawi¹,

Ali²

2012

Clinical Genetics

Stüve-Wiedemann syndrome (SWS) is a severe congenital skeletal dysplasia associated with life threatening dysautonomic manifestations. Newborns affected with this condition exhibit distinctive shortening and bowing of the long bones with reduced bone volume. The majority of affected newborns die early due to neuromuscular complications namely hyperthermia, apnea, and swallowing difficulties. In this review, we provide an overall picture on the clinical, including long-term management, molecular and cellular aspects of SWS and discuss briefly other related bent bone dysplasias.