Edit concept Question Editor Create issue ticket

Stimmler Syndrome


Presentation

  • ORPHA:3199 Synonym(s): - Prevalence: Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: - OMIM: 202900 UMLS: - MeSH: - GARD: 5026 MedDRA: - The documents contained in this web site are presented for information purposes only.[orpha.net]
  • In a study of two sisters born within a year of each other, both with Stimmler syndrome, it was found that high levels of alanine, pyruvate, and lactate were present in both the blood and urine.[en.wikipedia.org]
  • […] autosomal recessive genetic disorder whose symptoms appear before birth or during infancy. [1] In a study of two sisters born within a year of each other, both with Stimmler syndrome, it was found that high levels of alanine, pyruvate, and lactate were present[wikivisually.com]
Pain
  • Utilize the very latest approaches in hip surgery including hip resurfacing, hip preservation surgery, and treatment of hip pain in the young adult; and get the latest information on metal-on-metal hips so you can better manage patients with these devices[books.google.com]
  • Aneurysm rupture is a less common cause of pain (4).[scielo.isciii.es]
  • The signs of septic arthritis are fever, pain, swelling, heat, erythema and the loss of joint’s movement. Diagnosis is confirmed with biochemical examination and culture of synovial fluid 1.[jortho.org]
  • Fructose intolerance/malabsorption and recurrent abdominal pain in children. J Pediatr Gastroenterol Nutr. April 2014. 58:498-501. [Medline]. Douard V, Ferraris RP. The role of fructose transporters in diseases linked to excessive fructose intake.[reference.medscape.com]
  • Finally, the absence of significant pain in patients with severe inflammatory bowel disease and consequent mucosal erosion has been linked to altered cortical localization of pain perception, as determined by positron emission tomography [ Anton and Shanahan[clinicalgate.com]
Swelling
  • For example, mild and painless swelling of the foot joints may often mask extremely severe bone destruction. Several other bone changes associated with diabetes are only detectable by radiography.[books.google.de]
  • […] signals, simply, skeletal, skin, sobre, social, soft, solids, some, souffre, source, south, spain, specific, spit, sports, start, state, status, still, stimulating, strained, strikes, such, suddenly, suffering, supraventricular, susceptible, suspects, swelling[rapsodyonline.eurordis.org]
  • On physical examination we found erythema, swelling and high temperature over his left knee. The general symptoms were temperature 38,7oC, malaise and anorexia.[jortho.org]
  • There was a diffuse swelling it1 the sacral region and two marked dimples over the buttocks. X-rays confirmed the hypoplasia of the long bones of the legs and revealed agenesis of the vertebrae from L.3 down- 148 D. A. J.[docslide.net]
  • The often dramatic joint swelling lasts for several days and resolves but returns multiple times if treatment with antibiotics is not started.[clinicalgate.com]
Malnutrition
  • Eleven cases (55%) and twenty-six controls (43%) were classified as having malnutrition. (Table 1) There was no evidence of malnutrition in all of the subjects mothers.[docslide.com.br]
  • Prolymphocytic leukemia Properdin deficiency Prosencephaly cerebellar dysgenesis Prosopamnesia Prostaglandin antenatal infection Prostate cancer, familial Prostatic malacoplakia associated with prostatic abscess Prostatitis Protein C deficiency Protein–energy malnutrition[sosu.us]
Italian
  • Pronunciation Italian Pronunciation Italian Pronunciation Italian Pronunciation Italian Pronunciation Japanese Pronunciation Japanese Pronunciation Japanese Pronunciation Japanese Pronunciation Korean Pronunciation Korean Pronunciation Norwegian Pronunciation[pronouncekiwi.com]
Surgical Procedure
  • procedures SCASI SCAX3 SCAX4 SCCB SCCD SCCO SCD SCD-EDS SCD syndrome Scedosporiosis SCFE Schaaf-Yang syndrome Schaap-Taylor-Baraitser syndrome SCHAD deficiency Schauder syndrome Scheie syndrome Schilbach-Rott syndrome Schilder disease Schilder's disease[orpha.net]
Sputum
  • […] spirillosis, spirochaetal, spleen, splenic, splenomegaly, split, spondylitis, spondyloepiphyseal, spondylolisthesis, spondylolysis, spondylopathies, spondylopathy, spondylosis, spontaneous, sporotrichosis, sport, spotted, spouse, sprain, sprains, sprue, spur, sputum[rapsodyonline.eurordis.org]
Sneezing
  • […] sigmoid, signs, silent, silica, simian, simple, simplex, single, singleton, sinus, sinuses, sinusitis, siphon, site, sites, situ, situation, situs, size, skeletal, skeleton, skills, skin, skin, skull, sleep, slow, slowness, small, smell, smoke, snake, sneezing[rapsodyonline.eurordis.org]
Stridor
  • […] stimulants, stimulator, stock, stoma, stomach, stomatitis, storage, storm, strabismus, strain, strains, strange, streetcar, streptobacillosis, streptococcal, streptococci, streptococcus, stress, stressful, striae, striatonigral, striatus, stricture, stridor[rapsodyonline.eurordis.org]
Failure to Thrive
  • These symptoms include vomiting, hypoglycemia, failure to thrive, cachexia, hepatomegaly, jaundice, coagulopathy, coma, renal Fanconi syndrome, and severe metabolic acidosis (in part due to lactic acidosis). See the image below.[reference.medscape.com]
  • […] deficiency Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Severe factor IX deficiency Severe factor VIII deficiency Severe feeding difficulties-failure[orpha.net]
Small Teeth
  • Homepage Rare diseases Search Search for a rare disease Stimmler syndrome Disease definition Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes[orpha.net]
  • Symptoms for the disease include microcephaly, a low birth weight, dwarfism, small teeth, and diabetes.[en.wikipedia.org]
Microdontia
  • […] growth retardation Prenatal growth deficiency Prenatal growth retardation [ more ] 0001511 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Microdontia[rarediseases.info.nih.gov]
  • […] craniosynostosis Symphalangism brachydactyly Symphalangism Cushing type Symphalangism distal Symphalangism familial proximal Symphalangism short stature accessory testis Symphalangism with multiple anomalies of hands and feet Symphalangism, distal, with microdontia[bioreference.net]
Fracture
  • See how to proceed better than ever before with 45 surgical videos demonstrating hip revision, patellar tendon allograft preparation, open reduction internal fixation clavicle fracture, total shoulder arthroplasty, total elbow arthroplasty, and more -[books.google.com]
  • Spondyloepiphyseal dysplasia tarda progressive art Spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia, congenital type Spondyloepiphyseal dysplasia Spondylohypoplasia arthrogryposis popliteal pteryg Spondylometaphyseal dysplasia, 'corner fracture[bioreference.net]
  • J Am Coll Cardiol. 2009;54(6): 549-55 Naehle CP , Strach K , Thomas D , Meyer C , Linhart M, Bitaraf S, Litt H, Schwab JO, Schild H , Sommer T Is a valgus position of the femoral component in hip resurfacing protective against spontaneous fracture of[uni-bonn-radiologie.de]
Skeletal Dysplasia
  • dysplasia brachydactyly Skeletal dysplasia epilepsy short stature Skeletal dysplasia orofacial anomalies Skeletal dysplasia San diego type Skeletal dysplasias Skeleto cardiac syndrome with thrombocytopenia Sketetal dysplasia coarse facies mental retardation[bioreference.net]
  • dysplasia-brachydactyly syndrome Skeletal dysplasia-epilepsy-short stature syndrome Skeletal dysplasia, Greenberg type Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome Skeletal muscle disease Skeletal overgrowth-craniofacial dysmorphism-hyperelastic[orpha.net]
  • Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[reference.medscape.com]
Small Head
  • It is characterized by dwarfism, diabetes, a small head, and high levels of alanine in the urine. Symptoms for the disease include microcephaly, a low birth weight, dwarfism, small teeth, and diabetes.[en.wikipedia.org]
  • head, and high levels of alanine in the urine. [3] Symptoms [ edit ] Symptoms for the disease include microcephaly, a low birth weight, dwarfism, small teeth, and diabetes.[wikivisually.com]
  • head circumference [ more ] 0000252 Microdontia Decreased width of tooth 0000691 Short stature Decreased body height Small stature [ more ] 0004322 Type II diabetes mellitus Noninsulin-dependent diabetes Type 2 diabetes Type II diabetes [ more ] 0005978[rarediseases.info.nih.gov]
Hip Pain
  • Utilize the very latest approaches in hip surgery including hip resurfacing, hip preservation surgery, and treatment of hip pain in the young adult; and get the latest information on metal-on-metal hips so you can better manage patients with these devices[books.google.com]
Encephalopathy
  • The symptoms of Stimmler syndrome are closely related to a disease studied by Haworth et al. in 1967 as well as Leigh subacute necrotizing encephalopathy with lactic acidosis Stimmler syndrome is an autosomal recessive genetic disorder whose symptoms[en.wikipedia.org]
  • The symptoms of Stimmler syndrome are closely related to a disease studied by Haworth et al. in 1967 [4] as well as Leigh subacute necrotizing encephalopathy with lactic acidosis [5] Pathophysiology [ edit ] Stimmler syndrome is an autosomal recessive[wikivisually.com]
  • Neurologic Manifestations Systemic Juvenile Idiopathic Arthritis Acute encephalopathy The most common form of acute encephalopathy in children with systemic juvenile idiopathic arthritis is macrophage activation syndrome.[clinicalgate.com]
  • Neonatal organ system injury in acute birth asphyxia sufficient to result in neonatal encephalopathy. Obstet Gynecol 2002;99:688-91. Andreoli SA. Acute kidney injury in children. Pediatr Nephrol 2009; 24: 253-63 Umboh A.[saripediatri.org]
  • […] syndrome due to 5q31.3 microdeletion Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency Severe neonatal-onset encephalopathy with microcephaly Severe neurodegenerative syndrome due to BSCL2 deficiency Severe neurodegenerative syndrome[orpha.net]
Seizure
  • Recurrent seizures in patients whose initial seizures were well controlled suggest a drug-induced lupus-like syndrome. Moreover, when increasingly higher drug doses produce increased seizure activity, an antinuclear antibody study is appropriate.[clinicalgate.com]
  • […] scombroid, scorbutic, scorpion, screening, scrotal, scroti, scrotum, seafood, seafoods, seasonal, seborrhoea, seborrhoeic, second, secondary, secondary, secretion, section, sedative, sedatives, sedimentation, seduction, seeking, seen, segment, segmental, seizures[rapsodyonline.eurordis.org]
  • […] benign familial neonatal recessive form Seizures mental retardation hair dysplasia Selachophobia Selenium poisoning Selenophobia Selig Benacerraf Greene syndrome Sem-Set Seminoma Semmerkrot Haraldsson Weenaes syndrome Sener syndrome Sengers Hamel Otten[bioreference.net]
  • […] benign familial neonatal recessive form Seizures mental retardation hair dysplasia Sel–Seq [ edit ] Selective mutism Selenium poisoning Self-defeating personality disorder Selig–Benacerraf–Greene syndrome Seminoma Semmerkrot–Haraldsson–Weenaes syndrome[en.wikipedia.org]
  • . : 216 Kaaden S, Quesada C, Schramm J, Urbach H , Helmstaedter C Seizure outcome after selective amygdalo-hippocampectomy in bilateral compared to unilateral Ammon's horn sclerosis.[uni-bonn-radiologie.de]
Stupor
  • […] streetcar, streptobacillosis, streptococcal, streptococci, streptococcus, stress, stressful, striae, striatonigral, striatus, stricture, stridor, stroke, strongyloidiasis, structural, structurally, structure, structures, strychnine, studies, stump, stupor[rapsodyonline.eurordis.org]
Somnolence
  • […] size, skeletal, skeleton, skills, skin, skin, skull, sleep, slow, slowness, small, smell, smoke, snake, sneezing, so, social, socialized, sodium, soft, soil, solar, solids, solitary, solium, solvent, solvents, somatic, somatization, somatoform, some, somnolence[rapsodyonline.eurordis.org]
Hematuria
  • Laboratory Findings Laboratory features of SLE commonly include a positive antinuclear antibody titer, low C3 and C4 levels, leukopenia, direct Coombs-positive hemolytic anemia, hematuria, and proteinuria.[clinicalgate.com]
  • The presence of hemoglobin is common in cases of rhabdomyolysis, and in 1 study hematuria was reported as being present in 32% of the patients ( 6 ).[clinchem.aaccjnls.org]
Salpingitis
  • […] suddenly, suffering, supraventricular, susceptible, suspects, swelling, symptoms, syndrome, systemic, W.H.O DATABASE S sac, sacral, sacrococcygeal, sacroiliac, sacroiliitis, sacrum, sadomasochism, saginata, salicylates, saline, salivary, salmonella, salpingitis[rapsodyonline.eurordis.org]

Workup

  • Fifty-three patients (76.8%) were recommended to initiate a GT workup using the sentinel FRA score.[journals.lww.com]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
  • You can help by adding to it. ( August 2017 ) Treatment [ edit ] This section is empty. You can help by adding to it. ( August 2017 ) References [ edit ] a b "Stimmler syndrome". Orphanet.[wikivisually.com]

Prognosis

  • Prognosis depends on the primary disease. 4. Late HDN. Synonyms. - Acquired prothrombin complex deficiency (APCD) syn- drome in infants is common in Southeast Asia.[pdfslide.us]
  • EP3255435A1 ( en ) 2012-04-13 2017-12-13 Oasis Diagnostics Corporation Specific salivary biomarkers for risk detection, early diagnosis, prognosis and monitoring of alzheimer's and parkinson's diseases Family Cites Families (5) * Cited by examiner, †[patents.google.com]
  • The prognosis for children with SLE has improved dramatically, with an estimated 10-year survival of 85 percent [ Cassidy and Petty, 2001 ; Szer and Jacobs, 1992 ; Takei et al., 1997 ].[clinicalgate.com]
  • Prognosis, response to therapy, and prevalence of antibody to the retrovirus associated with the acquired immunodeficiency syndrome. Ann Intern Med 1985;103:542-545. 36. Oksenhendler E, Bierling P, Farcet JP, et al.[hivinsite.ucsf.edu]

Etiology

  • Etiology. Definite etiology inducing VKP is found in asso- ciation with bleeding: 1) Malabsorption of VK ie gut resection. 2) Biliary atresia. 3) Severe liver disease-induced intrahepatic biliary obstruc- tion, chlolestatic disease. etc.[pdfslide.us]
  • In addition, varying etiologies of disease observed across the studies could also be a bias and explain some of the differences seen in this systematic review.[clinchem.aaccjnls.org]
  • This chapter is a review of the clinical manifestations, etiology, diagnosis, and therapy of common hematologic problems encountered in patients with HIV infection.[hivinsite.ucsf.edu]
  • Discussion The common etiologies of gangrene of the extremities are atherosclerosis and diabetes mellitus. [1] Other diseases which can cause gangrene of extremities include systemic lupus erythematosus, progressive systemic sclerosis, Henoch-Schonlein[j-hhr.org]

Epidemiology

  • Epidemiology Frequency United States Although the true prevalence has not been established, hereditary fructose intolerance may be more common than originally believed; many asymptomatic affected people may simply avoid the ingestion of most or all sweets[reference.medscape.com]
  • Epidemiology of Vitamin K Deficiency. Disampaikan dalam KONIKA XIV di Bandung, Juli 2005.19.Lanzkowsky P. Manual of Pediatric Hematology and Oncology. Edisi ke-2. New York: Churchill Livingstone, 1995:239-54.20.Anonym. 2003. Vitamin K Deficiency.[docslide.com.br]
Sex distribution
Age distribution

Pathophysiology

  • The symptoms of Stimmler syndrome are closely related to a disease studied by Haworth et al. in 1967 [4] as well as Leigh subacute necrotizing encephalopathy with lactic acidosis [5] Pathophysiology [ edit ] Stimmler syndrome is an autosomal recessive[wikivisually.com]
  • This pathophysiology is shown to involve a wide variety of cell types, including T cells, B cells, natural killer cells, macrophages/monocytes, and endothelial cells.[lehmanns.de]
  • Pathophysiologic classification of lactic acidosis.[reference.medscape.com]
  • The pathophysiology of myoglobin-induced ARF has not been fully elucidated, but 3 major mechanisms have been proposed, the combination of which contributes to the overall renal damage.[clinchem.aaccjnls.org]

Prevention

  • Prevention. VKP at birth intramuscularly or by oral route can prevent classic HDN. 3. VKDB from secondary causes. Etiology.[pdfslide.us]
  • Medical Offices Regarding Chronic Care Management National Benefit Builders, Community Assistance Program with Americas Drug Card have Partnered with Medicare and they have issued us to institute a chronic care management (CCM) program. in an effort to prevent[pinterest.de]
  • VKP at birth intramuscularly or by oral route can prevent classic HDN.3. VKDB from secondary causes.Etiology.[docslide.com.br]
  • To prevent the complication of ARF in cases of rhabdomyolysis, prophylactic treatment with mannitol, sodium bicarbonate, and fluids is given ( 4 )( 5 )( 7 )( 8 ).[clinchem.aaccjnls.org]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!