Presentation
Normal results Bence Jones proteins normally are not present in the urine. Abnormal results Bence Jones proteins are present in 50-80% of people with multiple myeloma. [medical-dictionary.thefreedictionary.com]
Synonym(s): Hemifacial hyperplasia-strabismus syndrome Prevalence: <1 / 1 000 000 Inheritance: Autosomal dominant Age of onset: Childhood ICD-10: Q67.4 OMIM: 141350 UMLS: C1841640 MeSH: - GARD: 2633 MedDRA: - The documents contained in this web site are presented [orpha.net]
Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.com]
Reciprocal burnout model (RBM): Interconnectedness of interpersonal and intrapersonal factors [ presentation, pps, 323 kB] Pšeničny A. [psy.ff.uni-lj.si]
The article starts out by presenting an overview of the community. [orbilu.uni.lu]
Entire Body System
- Short Stature
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY; SOPH Is also known as ;soph syndrome Related symptoms: Autosomal recessive inheritance Short stature Generalized hypotonia Pica Hypertelorism SOURCES: OMIM MONDO GARD UMLS ORPHANET More info [mendelian.co]
That same patient was also of short stature (postnatal growth deficiency), had mild thoracolumbar scoliosis, pectus carinatum, coxae valgae, narrow iliac wings, hyperextensible knees, and a submucous cleft palate (the other family members were of normal [accesspediatrics.mhmedical.com]
stature-microcephaly syndrome Brachydactyly-short stature-retinitis pigmentosa syndrome Brachydactyly, Smorgasbord type Brachydactyly-symphalangism syndrome Brachydactyly-syndactyly, Zhao type Brachydactyly, Temtamy type Brachydactyly type A1 Brachydactyly [rarediseaseghana.org]
Stature, Craniofacial Dysmorphism,And Congenital Heart Defects Nystagmus 6, Congenital, X-Linked Oculocerebrorenal Syndrome Of Lowe Ophthalmoplegia Totalis With Ptosis And Miosis Persistent Placoid Maculopathy Pfeiffer Syndrome Type 3 Phace Syndrome [familydiagnosis.com]
stature syndrome 6 Cases 1259 Blepharoptosis-myopia-ectopia lentis syndrome 3 Cases 171844 Blindness-scoliosis- arachnodactyly syndrome 4 Cases 50945 Blomstrand lethal chondrodysplasia 13 Cases 125 Bloom syndrome 400 Cases 16 Blue cone monochromatism [azkurs.org]
- Swelling
[…] of the pain and swelling. [docslide.com.br]
In place of this circumstances, there are numerous additional modules library with bare outset that greatly swell its functionality. [christlutheranvh.org]
Clinical: Parotid gland swelling; facial paralysis ; lymphadenopathy; splenomegaly; cutaneous nodules; facial nerve palsy. Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976. Scadding JG. Sarcoidosis. [dentisty.org]
Moreover, endothelial cell dysfunction have been proposed based on studies reporting histological evidence of swelling and degeneration of endothelial cells, along with narrowing of the vascular lamina and fibromuscular hyperplasia [ 17 - 19 ]. [omicsonline.org]
Eyes
- Kayser-Fleischer Ring
Ocular: Visual field defects; scleral icterus; night blindness; abnormal color vision; eyelid retraction ; lid lag; Kayser-Fleischer ring; yellow discoloration of the conjunctiva. Clinical: Bilirubin accumulation; reduced vitamin A levels. [dentisty.org]
- Excessive Tearing
Ocular: Excess tearing; photophobia; dendritic lesions of the cornea with corneal sensitivity not affected; keratitis; papillary hypertrophy of conjunctiva; corneal haze; neovascularization of cornea; cataract ; nystagmus. [dentisty.org]
Neurologic
- Seizure
Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy. [mendelian.co]
Benign familial mesial temporal lobe epilepsy Benign familial neonatal convulsions Benign familial neonatal epilepsy Benign familial neonatal-infantile seizures Benign familial neonatal seizures Benign FMTLE Benign focal amyotrophy Benign focal seizures [rarediseaseghana.org]
Jacobsen Syndrome Marshall Syndrome Mental And Growth Retardation With Amblyopia Mental Retardation, Anterior Maxillary Protrusion, And Strabismus Mental Retardation, Autosomal Dominant 33 Morning Glory Syndrome Multiple Congenital Anomalies-Hypotonia-Seizures [familydiagnosis.com]
Beemer-Ertbruggen syndrome 2 Cases 1241 Bencze syndrome 2 Families 251287 Benign concentric annular macular dystrophy 27 Cases 71269 Benign exophthalmos syndrome 4 Cases 1949 Benign familial neonatal epilepsy 100 Families 140927 Benign familial neonatal- infantile seizures [azkurs.org]
Clinical: Sweating; flushing; pilomotor activity; nasal stuffiness; headaches; generalized seizures ; bradycardia; hypertension. Cole TM, et al. Alterations of cardiovascular control of high spinal myelomalacia. [dentisty.org]
- Akinesia
[…] agammaglobulinemia, age-related, agenesia, agenesis, agent, agglutinin, aggravated, aggregates, aggressive, aglossia, agm2, agnathia, agnogenic, agonadism, ahds, ahmad, ahn-lerman-sagie, aicardi, aicardi-goutieres, aids, aird, aires, airway, akaba, akinesia [rapsodyonline.eurordis.org]
Treatment
Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]
Treatment of amblyopia depends on the type. However, the younger the patient, the more likely that the treatment will be successful. [medical-dictionary.thefreedictionary.com]
Treatment - Bencze syndrome Not supplied. Resources - Bencze syndrome [checkorphan.org]
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]
Summarized for each entry are a listing of the anomalies associated with the syndromes, the treatment prognosis that allows proper choices of treatment plans, and differential diagnosis."--Jacket. [worldcat.org]
Prognosis
Prognosis - Bencze syndrome Not supplied. Treatment - Bencze syndrome Not supplied. Resources - Bencze syndrome [checkorphan.org]
Summarized for each entry are a listing of the anomalies associated with the syndromes, the treatment prognosis that allows proper choices of treatment plans, and differential diagnosis."--Jacket. [worldcat.org]
Summarized for each entry are a listing of the anomalies associated with the syndromes, the natural history of the disorder, and the treatment prognosis, which allows proper choices of treatment plans, and differential diagnosis. [booktopia.com.au]
Conf Proc IEEE Eng Med Biol Soc. 2007;2007:6629-32. -> Abstract PubMed Wittmann S, Zirn B, Alkassar M, Ambros P, Graf N, Gessler M Loss of 11q and 16q in Wilms tumors is associated with anaplasia, tumor recurrence, and poor prognosis. [uni-saarland.de]
Etiology
It has a diverse range of immunological manifestations and is more prominent in young women, with the exact etiology still unknown. Here is the latest research on systemic lupus erythematosus. [meta.org]
Synonyms bencze syndrome|hemifacial hyperplasia - strabismus Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here. [pediascape.org]
Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies. Am J Med Genet. 1986 ; 23: 903 – 918. Google Scholar | Medline | ISI Bencze, J. [journals.sagepub.com]
You'll also find up-to-date information about the etiology of each disorder. [worldcat.org]
The analysis studied the occurrence of voice and resonance disorders in general, the occurrence in different etiological subtypes of syndromes and the association with other disorders, in particular clefting, a cognitive impairment and hearing problems [karger.com]
Epidemiology
The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]
The changing epidemiology of SIDS following the national risk reduction campaigns. Pediatr Pulmonol Suppl 1997; 16: 117–119. Google Scholar | Crossref | Medline 12. Mitchell, E, Krous, HF, Donald, T. [journals.sagepub.com]
Rare disease registries pool data to achieve a sufficient sample size for epidemiological and/or clinical research [16, 17]. [genomemedicine.biomedcentral.com]
Pathophysiology
In this review, we touch briefly on the clinical presentation and the pathophysiology of the CSY and then we examine, in depth, the currently available evidence for the management of patients affected by this disorder. [omicsonline.org]
Prevention
Prevention - Bencze syndrome Not supplied. Diagnosis - Bencze syndrome Not supplied. Prognosis - Bencze syndrome Not supplied. Treatment - Bencze syndrome Not supplied. Resources - Bencze syndrome [checkorphan.org]
Amblyopia can result from any condition that prevents the eye from focusing clearly. Amblyopia can be caused by the misalignment of the two eyesa condition called strabismus. [familydiagnosis.com]
Gozal, David; Colell, Anna; Pinol Ripoll, Gerard; Navajas Navarro, Daniel; Almendros López, Isaac; Farré Ventura, Ramon 24-May-2018Acetylsalicylic acid prevents intermittent hypoxia-induced vascular remodeling in a murine model of sleep apneaSuarez [diposit.ub.edu]
Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]
Nat Protoc 3:14521456 Acknowledgement This function was supported before the Cancer Prevention and Probing Organize of Texas. [nhha.org]