Stuve-Wiedemann syndrome

Common Name(s)

Stuve-Wiedemann syndrome

Stuve-Wiedemann syndrome (STWS) is a congenital bone dysplasia characterized by small stature, congenital bowing of the long bones and other skeletal anomalies. Patients present with serious complications including respiratory and feeding distress and recurrent episodes of unexplained hyperthermia (elevated body temperature). The condition is transmitted in an autosomal recessive fashion and appears to be caused by mutations in the leukemia inhibitory factor receptor gene (LIFR) on chromosome 5p13. The majority of patients die during the neonatal period.  The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue. Treatment is symptomatic and supportive.  
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Stuve-Wiedemann syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Stuve-Wiedemann syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

Stuve-Wiedemann syndrome with a novel mutation.
 

Author(s): Megan Knipe, Rowan Stanbury, Sheila Unger, Mallinath Chakraborty

Journal:

 

We describe a female infant born at term to consanguineous parents, with a suspicion of skeletal dysplasia in utero. At birth, she had short limbs, camptodactyly, dysphagia leading to nasogastric tube feeds, and skeletal survey demonstrating dysplasia of long bones and spine. During ...

Last Updated: 1 Sep 2015

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Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones.
 

Author(s): M A Begam, W Alsafi, G N Bekdache, F Chedid, L Al-Gazali, H M Mirghani

Journal: Ultrasound Obstet Gynecol. 2011 Nov;38(5):553-8.

 

To describe the prenatal sonographic features of Stuve-Wiedemann syndrome (SWS).

Last Updated: 26 Oct 2011

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In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome.
 

Author(s): Samuel Bellais, Carine Le Goff, Nathalie Dagoneau, Arnold Munnich, Valérie Cormier-Daire

Journal: Eur. J. Hum. Genet.. 2010 Jan;18(1):130-2.

 

The Stüve-Wiedemann Syndrome (SWS) is a frequently lethal chondrodysplasia caused by null mutations in the leukemia inhibitory factor receptor gene (LIFR) responsible for an impaired activation of the JAK-STAT pathway after LIF stimulation. Most LIFR mutations are nonsense mutations, ...

Last Updated: 16 Dec 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Stuve-Wiedemann syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

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

Author(s): Dawn Mikelonis, Cheryl L Jorcyk, Ken Tawara, Julia Thom Oxford

Journal:

 

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, ...

Last Updated: 20 Mar 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.