RESULTS: The median age at presentation was 16 months (range, 14-72 months). All 4 cases consisted of bilateral plaque-like corneal scarring with reduced corneal sensation. [ncbi.nlm.nih.gov]

It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice. [whonamedit.com]

Discussion Management of SWS presents multiple challenges to the anaesthetist. In the case presented herein, skeletal abnormalities and fragility complicated obtaining intravenous access. [sciencerepository.org]

There were no anesthesia-related complications in the present or previous perioperative periods. On one occasion the patient developed mild postoperative hyperthermia. [mayoclinic.pure.elsevier.com]

• Pain

  These included temperature instability with excessive sweating, reduced pain sensation with repeated injury to the tongue and limbs, absent corneal reflexes and a smooth tongue. Mentality was normal in all of them. [ncbi.nlm.nih.gov]

  Anesthesia CNTF receptor pathway Crisponi syndrome Pediatric Schwartz-Jampel syndrome Stuve Wiedemann syndrome Pediatrics, Perinatology, and Child Health Anesthesiology and Pain Medicine APA Standard Harvard Vancouver Author BIBTEX RIS [mayoclinic.pure.elsevier.com]

  Neurological features resemble dysautonomia with temperature instability, reduced pain sensation, and absent corneal reflexes; however, intellectual capabilities are normal. [ai-online.info]

  Affected infants may also sweat excessively, even when the body temperature is not elevated, or have a reduced ability to feel pain. [rarediseases.oscar.ncsu.edu]

  In addition, affected children may also sweat excessively, even when no body temperature rises, or have a reduced ability to feel pain. [ivami.com]

• Single Transverse Palmar Crease

  Clinical characteristics of SWS include bowing of the long bones (bent-bone dysplasia), hypertelorism, micrognathia, single transverse palmar crease, trismus, camptodactyly, deformities of joints and extremities, facial dysmorphism, hypotonia, growth [ai-online.info]

  transverse palmar crease 0000954 Square face Square facial shape 0000321 Talipes 0001883 Talipes valgus 0004684 Thin ribs Slender ribs 0000883 Thin skin 0000963 Tibial bowing Bowed shankbone Bowed shinbone [ more ] 0002982 Ulnar deviation of finger Finger [rarediseases.info.nih.gov]

• Intermittent Fever

  Episodic fever Increased body temperature, episodic Intermittent fever [ more ] 0001954 Short stature Decreased body height Small stature [ more ] 0004322 Skeletal dysplasia 0002652 Thickened cortex of long bones 0000935 30%-79% of people have these [rarediseases.info.nih.gov]

• Poor Feeding

  […] swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 Enlarged joints 0003037 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Femoral bowing Bowed thighbone 0002980 Flared metaphysis Flared wide portion of long [rarediseases.info.nih.gov]

• Short Finger

  […] neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short palpebral fissure Short opening between the eyelids 0012745 Short phalanx of finger Short finger bones 0009803 Short tibia Short shinbone [rarediseases.info.nih.gov]

• Failure to Thrive

  The younger male patient had multiple admissions because of failure to thrive and recurrent respiratory problems with laryngospasm. He died at the age of 2 years. [cags.org.ae]

  Widened middle and proximal phalanges, failure to thrive, craniofacial abnormalities (small face, prominent eyes, blue sclera, flat nose with anteverted nares, choanal atresia, and glossoptosis). [icd10data.com]

  Onset in early childhood or infancy has an especially rapid and aggressive course often associated with failure to thrive and regression of motor milestones. Expansion of a CAG trinucleotide repeat in ATXN7 is causative. [ncbi.nlm.nih.gov]

• Low Set Ears

  SWS patients have similar facial characteristics, including the following: Facial characteristics Low-set ears Squared jaw Small jaw Puckered chin Pursed lips Short neck Smooth tongue Malocclusion (crooked teeth) Hyperthermia (high body temperature) is [forgottendiseases.org]

  […] muscle tone [ more ] 0001290 Hoarse voice Hoarseness Husky voice [ more ] 0001609 Hypoplastic iliac body 0008824 Low-set ears Low set ears Lowset ears [ more ] 0000369 Malar flattening Zygomatic flattening 0000272 Metaphyseal rarefaction 0004980 Micrognathia [rarediseases.info.nih.gov]

• Corneal Opacity

  Bilateral corneal opacities were dealt with by means of corneal transplantation performed at the age of 6 years. [smw.ch]

  SWS patients often show a combination of reduced corneal and blinking reflexes, hypolacrimation and corneal anaesthesia, leading to keratitis, corneal ulcerations and opacities. [ojrd.biomedcentral.com]

• Thin Skin

  […] ribs Slender ribs 0000883 Thin skin 0000963 Tibial bowing Bowed shankbone Bowed shinbone [ more ] 0002982 Ulnar deviation of finger Finger bends toward pinky 0009465 Wide nasal base Broad base of nose Broad nasal base Increased width of base of nose [rarediseases.info.nih.gov]

• Fracture

  Increased fracture rate Increased fractures Multiple fractures Multiple spontaneous fractures Varying degree of multiple fractures [ more ] 0002757 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Scoliosis Abnormal curving [rarediseases.info.nih.gov]

  The patient developed a fracture of proximal right femoral diaphysis after minor fall which was treated with intramedullary nail fixation. Chest wall deformities also noted. Loading images... Progressive scoliosis. Loading images... [radiopaedia.org]

• Lordosis

  Spine shows kyphoscoliosis, lumbar lordosis, platyspondyly and cleft vertebrae. [ispub.com]

  He had short height and low weight for age, bowed limbs, marked lumbar lordosis and umbilical hernia. [scielo.br]

• Muscle Hypotonia

  Infantile-onset spinocerebellar ataxia (IOSCA) is a severe, progressive neurodegenerative disorder characterized by normal development until age one year, followed by onset of ataxia, muscle hypotonia, loss of deep-tendon reflexes, and athetosis. [ncbi.nlm.nih.gov]

• Short Neck

  SWS patients have similar facial characteristics, including the following: Facial characteristics Low-set ears Squared jaw Small jaw Puckered chin Pursed lips Short neck Smooth tongue Malocclusion (crooked teeth) Hyperthermia (high body temperature) is [forgottendiseases.org]

  Additional symptoms of SJS may include: A short stature Flattened facial features, narrow corners of the eyes, and a small lower jaw Joint deformities such as short neck, outward curving of the spine (kyphosis), or protruding chest (pectus carinatum, [verywell.com]

  The affected baby had, in addition, agenesis of the corpus callosum and other non-specific dysmorphic features including microganthia, a short neck and low set ears. [cags.org.ae]

  neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short palpebral fissure Short opening between the eyelids 0012745 Short phalanx of finger Short finger bones 0009803 Short tibia Short shinbone [rarediseases.info.nih.gov]

• Seizure

  This is a case report of a child with SWS who had a febrile illness and epileptic seizures which led to severe rhabdomyolysis outside the context of anaesthesia, and we would like to draw the attention of clinicians to this potential complication. [ncbi.nlm.nih.gov]

  The patient developed multiple episodes of seizure during early infancy which was resolved later on. He had multiple corneal ulcers as well. [radiopaedia.org]

  This is a case report of a child with SWS who had a febrile illness and epileptic seizures which led to severe rhabdomyolysis outside the context of anaesthesia, and we would like to draw the attention of clinicians to this potential complication. muscle [casereports.bmj.com]

  Other associated features include advanced bone age, seizures, neonatal jaundice; hypotonia; and scoliosis. It is also associated with increased risk of developing neoplasms in adulthood. [icd10data.com]

It is of crucial importance to diagnose such babies earlier in order to prevent extensive laboratory workup and to provide proper genetic counseling. [ncbi.nlm.nih.gov]

It is of crucial importance to diagnose such babies earlier in order to prevent extensive laboratory workup and to provide proper genetic counseling. © 2014 Wiley Periodicals, Inc. [ingentaconnect.com]

Previous workup included basic blood and urine as well as serologic, immunologic and broad metabolic studies that were all negative. Endocrine evaluation revealed prepubertal FSH, LH and estradiol levels. [epostersonline.com]

It is of crucial importance to diagnose such babies earlier in order to prevent extensive laboratory workup and to provide proper genetic counseling. Keywords: LIFR; Stuve-Wiedemann syndrome; founder effect. © 2014 Wiley Periodicals, Inc. [pubmed.ncbi.nlm.nih.gov]

[…] and bacterial community in three sludge treatment wetlands under different operating conditions. 61 Wang S...Liang J 32090846 2020 31 Evaluation of the fate of nutrients, antibiotics, and antibiotic resistance genes in sludge treatment wetlands. 61 Ma [malacards.org]

Treatment comprised topical lubrication, punctal plugs, lateral tarsorrhaphies, surgical optical iridectomies when required, and aggressive visual rehabilitation with frequent refraction and occlusion therapy if necessary. [ncbi.nlm.nih.gov]

Treatment is symptomatic and supportive. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI. [diseaseinfosearch.org]

Standard Therapies Treatment The treatment of STWS currently involves treatment of the symptoms of each patient. [rarediseases.org]

We confirm that survival in this syndrome is possible and that the prognosis improves after the first year of life. This should be taken into consideration when counselling parents of affected children. [ncbi.nlm.nih.gov]

Prognosis - Stuve-Wiedemann syndrome Not supplied. Treatment - Stuve-Wiedemann syndrome Not supplied. Resources - Stuve-Wiedemann syndrome Not supplied. [checkorphan.org]

Developmental dysmorphism classically worsens with age, therefore translating in a poor prognosis. In this article, we describe a case of a 27-year-old woman diagnosed with SWS proposed for abscess drainage under dissociative anesthesia. [link.springer.com]

In those that do, however, respiratory problems improve, as does prognosis (1). A variety of musculoskeletal problems occur in SWS. [forgottendiseases.org]

Prognosis SWS is a life-threatening disease which is usually fatal during the neonatal period, due to respiratory distress or hyperthermic episode. [orpha.net]

The significance of the SMC to the etiology of SWS is unknown. This patient further demonstrates that SWS is not universally lethal. [ncbi.nlm.nih.gov]

[…] mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. 61 6 57 Dagoneau N...Cormier-Daire V 14740318 2004 5 Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome. 61 57 Raas-Rothschild A...Rein AJ 12910496 2003 6 Molecular etiology [malacards.org]

Anesth Essays Res 8(3):283–290. https://doi.org/10.4103/0259-1162.143110 Article PubMed PubMed Central Google Scholar Mikelonis D, Jorcyk CL, Tawara K et al (2014) Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology [link.springer.com]

Dawn Mikelonis, Cheryl L Jorcyk, Ken Tawara and Julia Oxford, Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology, Orphanet Journal of Rare Diseases, 9, 1, (34), (2014). M. A. Begam, W. Alsafi, G. N. Bekdache, F. [doi.org]

Mikelonis D et al. (2014) Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology. Orphanet J Rare Dis 9: 34. Full text on PubMed. 2. [forgottendiseases.org]

Epidemiology and Demographics It is a rare syndrome with few cases reported in the literature. Diagnosis Patients present with serious complications including respiratory distress and recurrent episodes of unexplained hyperthermia. [wikidoc.org]

Summary Epidemiology SWS is a rare syndrome with few cases reported to date, but the disease is relatively common in the United Arab Emirates, apparently due to a high number of consanguineous unions, with a reported prevalence of approximately 0,5/10,000 [orpha.net]

Source: American Journal of Respiratory and Critical Care Medicine - April 19, 2019 Category: Respiratory Medicine Authors: Griese M, Bonella F, Costabel U, de Blic J, Tran NB, Liebisch G Tags: Am J Respir Crit Care Med Source Type: research Conclusions Epidemiological [medworm.com]

A cross-sectional epidemiologic study. Haley, R.W., Kurt, T.L. JAMA (1997) [ Pubmed ] Resolution in electron microscope autoradiography. III. Iodine-125, the effect of heavy metal staining, and a reassessment of critical parameters. [wikigenes.org]

We suggest a common pathophysiological process, which could explain the cardiovascular findings that we observed immediately after birth in the two affected sibs. [ncbi.nlm.nih.gov]

Pathophysiology Genetics The condition is transmitted as an autosomal recessive trait and is caused by null mutations in the leukaemia inhibitory factor receptor (LIFR) gene located on chromosome 5p13. [wikidoc.org]

Treatment of Relapsed/Refractory Hairy Cell Leukemia .................... ..................... ..................... ..................... ...................... ..................... ..................... ..................... .. 24 Diagnosis of Immune Pathophysiology [scribd.com]

The pathophysiology of the disease is not clearly understood, but electromyography shows nonvariable, continuous high frequency electrical activity ( 10 ). [ajnr.org]

Neither the pathophysiological mechanism nor the pathological course in our current patient seems similar to children with metabolic disorders. [link.springer.com]

Fassier-Duval rodding has a role in the prevention of recurrence of deformity and should be considered as a means to reduce the number of operative procedures required. Level IV-therapeutic. [ncbi.nlm.nih.gov]

This might include prevention of choking while eating via a tube that connects the nose to the stomach for feeding (nasogastric tube), prevention of inhaling food on accident (lung aspiration), or physiotherapy and/or surgery to correct bone malformations [rarediseases.org]