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]

[…] 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]

The presentations contained within this book bring together their most current and vital research related to growth hormone. Section I deals with an examination of the molecular and biochemical events which define the growth hormone process. [books.google.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

  Malnutrition is thought to contribute to 5 million Characterised by irritability, anorexia, oedema Sean Edwards of the 10. [pfeiffersche-stiftungen.de]

  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]

• 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]

• 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]

  Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. [findzebra.com]

• Microdontia

  Medical Term Other Names Description Microdontia Hypotrophic tooth, Small tooth, Decreased width of tooth, Small teeth, Decreased size of tooth [more] Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than [rarediseases.oscar.ncsu.edu]

  […] 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]

• Small Head

  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]

  Microcephaly small cranium, Decreased circumference of cranium, Small head, Small skull, Small head circumference, Reduced head circumference, Decreased size of cranium, Decreased size of skull, Abnormally small skull, Decreased size of head, Abnormally [rarediseases.oscar.ncsu.edu]

  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. [en.wikipedia.org]

  It is characterized by dwarfism, diabetes, a small head, and high levels of alanine in the urine. Symptoms Symptoms for the disease include microcephaly, a low birth weight, dwarfism, small teeth, and diabetes. [findzebra.com]

  It is characterized by dwarfism, diabetes, small head, and a high level of alanine in the urine. 1. Symptoms. (Симптомы) The symptoms of this disease include microcephaly, low birth weight, short stature, small teeth, and diabetes. [amp.en.google-info.in]

• 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 the femoral [uni-bonn-radiologie.de]

• Severe Short Stature

  short stature IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

  Severe short stature Proportionate dwarfism, Dwarfism A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. [rarediseases.oscar.ncsu.edu]

  short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Showing of 15 | Last updated: 2/1/2021 Find a Specialist Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who [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]

• Polyneuropathy

  […] hand defect Polyneuropathy mental retardation acromicria prema Polyomavirus Infections Polyostotic fibrous dysplasia Polyp–Polys Polyposis skin pigmentation alopecia fingernail changes Polysyndactyly cardiac malformation Polysyndactyly microcephaly ptosis [sosu.us]

  Neuropathy manifesting as either mononeuritis multiplex or acute demyelinating polyneuropathy may occur at any time during SLE, may recur, and generally worsens when CNS involvement is greater. [clinicalgate.com]

  Stüve-Wiedemann syndrome Stx-HUS Suarez-Stickler syndrome Subacute angiohypertrophic myelomalacia Subacute ascending necrotizing myelitis Subacute cutaneous lupus erythematosus Subacute inclusion body encephalitis Subacute inflammatory demyelinating polyneuropathy [orpha.net]

• Guillain-Barré Syndrome

  Polyradiculoneuropathy may mimic Guillain–Barré syndrome in children; however, this pattern is extremely rare [ Norris et al., 1977 ; Robson et al., 1994 ]. [clinicalgate.com]

• 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]

• 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]

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

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 Type A Niemann–Pick disease (about 85% of cases) has an extremely poor prognosis, with most cases being fatal by the age of 18 months. [wiki.cdv.demo.datexis.com]

Prognosis depends on the primary disease. 4. Late HDN. Synonyms. - Acquired prothrombin complex deficiency (APCD) syn- drome in infants is common in Southeast Asia. [vdocuments.site]

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]

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. [vdocuments.site]

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 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]

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]

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 genetic [en.wikipedia.org]

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 Pathophysiology Stimmler syndrome is an autosomal recessive genetic disorder [findzebra.com]

Pathophysiology. (Патофизиология) Stimmler syndrome is an autosomal recessive genetic disease, the symptoms of which begin before birth or in infancy. [amp.en.google-info.in]

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]

Prevention. VKP at birth intramuscularly or by oral route can prevent classic HDN. 3. VKDB from secondary causes. Etiology. [vdocuments.site]

She has worked with a wide range of clinical conditions in private practice and public hospital settings, with a special interest in food intolerances, weight management and chronic disease prevention and management. [maidstonefamilyclinic.com.au]

VKP at birth intramuscularly or by oral route can prevent classic HDN.3. VKDB from secondary causes.Etiology. [docslide.com.br]

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]