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]

• 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]

• Short Finger

  finger bones 0009803 Short tibia Short shinbone Short skankbone [ more ] 0005736 Single transverse palmar crease 0000954 Square face Square facial shape 0000321 Talipes 0001883 Talipes valgus 0004684 Thin ribs Slender ribs 0000883 Thin skin 0000963 Tibial [rarediseases.info.nih.gov]

• Poor Feeding

  feeding [ more ] 0011968 Femoral bowing Bowed thighbone 0002980 Flared metaphysis Flared wide portion of long bone 0003015 Flexion contracture of toe 0005830 Frontal bossing 0002007 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] [rarediseases.info.nih.gov]

• Intermittent Fever

  Metaphyseal widening Broad wide portion of long bone 0003016 Micromelia Smaller or shorter than typical limbs 0002983 Paresthesia Pins and needles feeling Tingling [ more ] 0003401 Recurrent fever Episodic fever Increased body temperature, episodic Intermittent [rarediseases.info.nih.gov]

• Turkish

  We provide the clinical follow-up and molecular aspects of six new patients who carried the same novel mutation in the LIFR gene (p.Arg692X) and three patients carried a common haplotype at the LIFR locus supporting a founder effect in the Turkish population [ncbi.nlm.nih.gov]

  We provide the clinical follow‐up and molecular aspects of six new patients who carried the same novel mutation in the LIFR gene (p.Arg692X) and three patients carried a common haplotype at the LIFR locus supporting a founder effect in the Turkish population [ingentaconnect.com]

  […] 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 of arthrogryposis in multiple families of mostly Turkish [malacards.org]

• Pneumonia

  We observed that in one of our patients, oropharyngeal disruption in the swallowing process caused repetitive aspiration pneumonias, life-threatening events, and finally death. [ncbi.nlm.nih.gov]

• Oral Ulcers

  Severe osteoporosis, bone deformities, milias, leukocoria, inflammatory lesions on distal extremities, tongue biting behavior and oral ulcers could be more prominent features of the survivors beyond the neonatal period while respiratory and feeding problems [ncbi.nlm.nih.gov]

• Severe Osteoporosis

  Stuve-Wiedemann Syndrome (SWS) (OMIM #601559) is an autosomal recessive disorder characterized by skeletal changes, bowing of the lower limb, severe osteoporosis and joint contractures, episodic hyperthermia, frequent respiratory infections, feeding problems [ncbi.nlm.nih.gov]

  Stuve–Wiedemann Syndrome (SWS) (OMIM #601559) is an autosomal recessive disorder characterized by skeletal changes, bowing of the lower limb, severe osteoporosis and joint contractures, episodic hyperthermia, frequent respiratory infections, feeding problems [ingentaconnect.com]

• 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]

• Corneal Opacity

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

• Ulcer

  […] patients with SWS aged 12 and 3 years who have both the osteodysplastic symptoms of the entity as well as autonomic nervous system symptoms resembling familial dysautonomia: lack of corneal reflex and neuropathic keratitis, absence of fungiform papillae, ulcerations [ncbi.nlm.nih.gov]

  We describe a 3-year-old child diagnosed with SWS to whom we administered general anesthesia during the removal of a corneal ulcer and dilatation of the lacrimal duct. [repository.ubn.ru.nl]

  Severe osteoporosis, bone deformities, milias, leukocoria, inflammatory lesions on distal extremities, tongue biting behavior and oral ulcers could be more prominent features of the survivors beyond the neonatal period while respiratory and feeding problems [ingentaconnect.com]

• Thin Skin

  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 Increased width of nasal base Wide [rarediseases.info.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]

  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]

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]

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]

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]

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]

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]

Etiology SWS is due to missense or nonsense mutations in the leukemia inhibitory factor receptor ( LIFR ) gene (5p13.1). [orpha.net]

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]

Epidemiology [ edit ] Beckwith–Wiedemann syndrome has an estimated incidence of one in 13,700; about 300 children with BWS are born each year in the United States. [21] The exact incidence of BWS is unknown because of the marked variability in the syndrome's [en.wikipedia.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]

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]

For detailed information about rare diseases (pathophysiology, treatment options), treatment centres, and patient organisations, visit Orphanet (www.orpha.net) to find information about more than 5.000 rare diseases. [orphananesthesia.eu]

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. [ncbi.nlm.nih.gov]

[…] and/or surgery for bone malformations, eyes protection from damage to prevent visual loss, and osteopenia or osteoporosis treatment. [orpha.net]