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Banki Syndrome
Orphanet
Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis).
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Dialysis Disequilibrium Syndrome
Wikipedia
Cerebral edema was thus attributed to osmotic effects related to a high urea gradient between plasma and brain. [4] Symptoms [ edit ] Symptoms of the mild degree of Disequilibrium syndrome is often missed with other dialysis complications. ... Free Full Text ^ Mistry K. (2019). Dialysis disequilibrium syndrome prevention and management. International journal of nephrology and renovascular disease, 12, 69–77. https://doi.org/10.2147/IJNRD.S165925 ^ Port FK, Johnson WJ, Klass DW (1973). "Prevention of dialysis disequilibrium syndrome by use of high sodium concentration in the dialysate". ... "Papilledema associated with dialysis disequilibrium syndrome". Semin Ophthalmol . 22 (3): 133–5. doi : 10.1080/08820530701421585 . ... External links [ edit ] Dialysis disequilibrium syndrome at the United States National Library of Medicine Dialysis Disequilibrium Syndrome (DDS) – Rare but serious complication of dialysis
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Psoas Muscle Abscess
Wikipedia
External links [ edit ] Classification D ICD - 10 : K68.12 ICD - 9-CM : 567.31 MeSH : D016659 v t e Diseases of the digestive system Upper GI tract Esophagus Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory–Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus Esophageal intramural pseudodiverticulosis Stomach Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus Buried bumper syndrome Gastrinoma Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine ( Duodenum / Jejunum / Ileum ) Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption : Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease Bile acid malabsorption Large intestine ( Appendix / Colon ) Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis / Diverticulosis / SCAD Large and/or small Enterocolitis Necrotizing Gastroenterocolitis IBD Crohn's disease Vascular : Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction : Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions Rectum Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus Anal canal Anal fissure / Anal fistula Anal abscess Hemorrhoid Anal dysplasia Pruritus ani GI bleeding Blood in stool Upper Hematemesis Melena Lower Hematochezia Accessory Liver Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd–Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's disease Hemochromatosis Gallbladder Cholecystitis Gallstone / Cholelithiasis Cholesterolosis Adenomyomatosis Postcholecystectomy syndrome Porcelain gallbladder Bile duct / Other biliary tree Cholangitis Primary sclerosing cholangitis Secondary sclerosing cholangitis Ascending Cholestasis / Mirizzi's syndrome Biliary fistula Haemobilia Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction Pancreatic Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula Other Hernia Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia Richter's Peritoneal Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum Pneumoperitoneum This article about an endocrine, nutritional, or metabolic disease is a stub .
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Richter's Hernia
Wikipedia
PMID 22096675 . v t e Diseases of the digestive system Upper GI tract Esophagus Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory–Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus Esophageal intramural pseudodiverticulosis Stomach Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus Buried bumper syndrome Gastrinoma Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine ( Duodenum / Jejunum / Ileum ) Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption : Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease Bile acid malabsorption Large intestine ( Appendix / Colon ) Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis / Diverticulosis / SCAD Large and/or small Enterocolitis Necrotizing Gastroenterocolitis IBD Crohn's disease Vascular : Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction : Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions Rectum Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus Anal canal Anal fissure / Anal fistula Anal abscess Hemorrhoid Anal dysplasia Pruritus ani GI bleeding Blood in stool Upper Hematemesis Melena Lower Hematochezia Accessory Liver Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd–Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's disease Hemochromatosis Gallbladder Cholecystitis Gallstone / Cholelithiasis Cholesterolosis Adenomyomatosis Postcholecystectomy syndrome Porcelain gallbladder Bile duct / Other biliary tree Cholangitis Primary sclerosing cholangitis Secondary sclerosing cholangitis Ascending Cholestasis / Mirizzi's syndrome Biliary fistula Haemobilia Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction Pancreatic Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula Other Hernia Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia Richter's Peritoneal Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum Pneumoperitoneum
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Petit's Hernia
Wikipedia
External links [ edit ] Classification D ICD - 10 : K45 ICD - 9-CM : 553.8 eMedicine v t e Diseases of the digestive system Upper GI tract Esophagus Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory–Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus Esophageal intramural pseudodiverticulosis Stomach Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus Buried bumper syndrome Gastrinoma Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine ( Duodenum / Jejunum / Ileum ) Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption : Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease Bile acid malabsorption Large intestine ( Appendix / Colon ) Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis / Diverticulosis / SCAD Large and/or small Enterocolitis Necrotizing Gastroenterocolitis IBD Crohn's disease Vascular : Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction : Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions Rectum Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus Anal canal Anal fissure / Anal fistula Anal abscess Hemorrhoid Anal dysplasia Pruritus ani GI bleeding Blood in stool Upper Hematemesis Melena Lower Hematochezia Accessory Liver Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd–Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's disease Hemochromatosis Gallbladder Cholecystitis Gallstone / Cholelithiasis Cholesterolosis Adenomyomatosis Postcholecystectomy syndrome Porcelain gallbladder Bile duct / Other biliary tree Cholangitis Primary sclerosing cholangitis Secondary sclerosing cholangitis Ascending Cholestasis / Mirizzi's syndrome Biliary fistula Haemobilia Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction Pancreatic Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula Other Hernia Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia Richter's Peritoneal Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum Pneumoperitoneum
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Cholesterolosis Of Gallbladder
Wikipedia
External links [ edit ] Classification D ICD - 10 : K82.4 ICD - 9-CM : 575.6 DiseasesDB : 31524 v t e Diseases of the digestive system Upper GI tract Esophagus Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory–Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus Esophageal intramural pseudodiverticulosis Stomach Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus Buried bumper syndrome Gastrinoma Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine ( Duodenum / Jejunum / Ileum ) Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption : Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease Bile acid malabsorption Large intestine ( Appendix / Colon ) Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis / Diverticulosis / SCAD Large and/or small Enterocolitis Necrotizing Gastroenterocolitis IBD Crohn's disease Vascular : Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction : Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions Rectum Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus Anal canal Anal fissure / Anal fistula Anal abscess Hemorrhoid Anal dysplasia Pruritus ani GI bleeding Blood in stool Upper Hematemesis Melena Lower Hematochezia Accessory Liver Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd–Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's disease Hemochromatosis Gallbladder Cholecystitis Gallstone / Cholelithiasis Cholesterolosis Adenomyomatosis Postcholecystectomy syndrome Porcelain gallbladder Bile duct / Other biliary tree Cholangitis Primary sclerosing cholangitis Secondary sclerosing cholangitis Ascending Cholestasis / Mirizzi's syndrome Biliary fistula Haemobilia Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction Pancreatic Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula Other Hernia Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia Richter's Peritoneal Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum Pneumoperitoneum
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Hypertelorism, Teebi Type
Omim
Clinical Features Teebi (1987) described a 4-generation Arab family in which many individuals showed striking hypertelorism with some other features suggesting craniofrontonasal syndrome (CFNS; 304110) or Aarskog syndrome (305400). ... Morris et al. (1987) concluded that the family had craniofrontonasal syndrome, but McGaughran et al. (2002) suggested that the family may instead have had Teebi syndrome, since the affected males demonstrated additional anomalies not usually observed in CFNS. ... Han et al. (2006) reported a 4.5-year-old girl with clinical features of Teebi hypertelorism syndrome who required a pacemaker for third-degree atrioventricular block, a finding not reported in 36 patients previously diagnosed with Teebi hypertelorism syndrome. ... Bhoj et al. (2015) reported 2 unrelated families with clinical features of Teebi hypertelorism syndrome. An affected mother and son in the first family had previously been reported by Hoffman et al. (2007) as having a distinct syndrome resembling Teebi hypertelorism and Aarskog syndromes. ... The family with the missense mutation, in which a mother and son were affected, had previously been reported by Hoffman et al. (2007) as having a distinct syndrome resembling Teebi hypertelorism and Aarskog syndromes.
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Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Omim
Description Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (163950), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. ... Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen Hair NSLH2 (617506) is caused by mutation in the PPP1CB gene (600590) on chromosome 2p23. ... Mazzanti et al. (2003) suggested that the disorder in these children is distinct from Noonan syndrome. Cordeddu et al. (2009) studied 25 patients with Noonan syndrome-like disorder with loose anagen hair and observed facial features that were typical of Noonan syndrome, including macrocephaly, high forehead, hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, in addition to short and webbed neck and pectus anomalies. ... Gripp et al. (2013) reported 5 unrelated children with molecularly confirmed Noonan syndrome-like disorder and loose anagen hair. ... All 25 patients with the S2G mutation had a relatively consistent Noonan syndrome-like phenotype with loose anagen hair.
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Facet Syndrome
Wikipedia
This is why patients experiencing symptomatic facet syndrome can feel pain in their shoulders, legs and even manifested in the form of headaches. [5] Cause [ edit ] Like many other joints throughout the human body, facets can experience natural degeneration from normal aging. ... Lack of physical exercise or daily activity (questionably) Pathophysiology [ edit ] 55% of facet syndrome cases occur in cervical vertebrae , and 31% in lumbar. ... Inflamed facets can cause a powerful muscle spasm . [ citation needed ] Diagnosis [ edit ] Facet arthropathy or 'facet syndrome' can typically be diagnosed through a physical examination, MRI , x-rays and/or a diagnostic block into the suspected joint. [5] Facet syndrome has no specific code in ICD -10. ... PMC 4018241 . PMID 23973131 . ^ "Facet Joint Syndrome" . www.cedars-sinai.edu . Retrieved 2017-09-20 . ^ a b "Facet Joint Syndrome - UCLA Neurosurgery, Los Angeles, CA" . neurosurgery.ucla.edu . ... New York: McGraw Hill, p. 160. ^ Where is the ICD-10 code for facet syndrome? www.chirocode.com. ^ Facet Syndrome www.joimax.com. ^ A.
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Lambert Syndrome
Orphanet
Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.
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Meier-Gorlin Syndrome 1
Omim
Genetic Heterogeneity of Meier-Gorlin Syndrome Most forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 (613800), caused by mutation in the ORC4 gene (603056) on chromosome 2q23; Meier-Gorlin syndrome-3 (613803), caused by mutation in the ORC6 gene (607213) on chromosome 16q11; Meier-Gorlin syndrome-4 (613804), caused by mutation in the CDT1 gene (605525) on chromosome 16q24; Meier-Gorlin syndrome-5 (613805), caused by mutation in the CDC6 gene (602627) on chromosome 17q21; Meier-Gorlin syndrome-7 (617063), caused by mutation in the CDC45L gene (603465) on chromosome 22q11; and Meier-Gorlin syndrome-8 (617564), caused by mutation in the MCM5 gene (602696) on chromosome 22q12. An autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 (616835), is caused by mutation in the GMNN gene (602842) on chromosome 6p22. ... Loeys et al. (1999) reported 2 brothers with Meier-Gorlin syndrome, the younger of whom was more severely affected. ... Bongers et al. (2005) presented pictures of the Meier-Gorlin syndrome in a 5-year-old boy with small and simply formed ears and full lips. ... Exclusion Studies Because the Meier-Gorlin syndrome had been suggested as the human equivalent of the 'short ear' mouse (Lacombe et al., 1994), Cohen et al. (2002) performed a mutation analysis of the BMP5 (112265) gene, which is mutant in the mouse disorder, in a patient with Meier-Gorlin syndrome; no mutation was found.ORC1, CDT1, GMNN, ORC6, CDC6, ORC4, CDC45, BMP5, DRD2, SLC6A3, CYP2D6, MAPK1, MYH9, TLR4, MTOR, RBP4, MCM5, PSEN1, COMT, PTH, MAPK3, SOD1, RELA, PRKCA, PRKACG, RGS2, ATXN2, SLC18A2, VEGFA, SYT1, TGFB1, TNF, PIK3CG, PDPN, POSTN, CHEK2, PLCB1, SIRT1, ORC3, DISC1, CLEC7A, GORASP1, WNK1, PLA2G4A, ACTG1, PIK3CA, HTR2A, ASPH, BRCA2, BSG, CD2, COL1A1, CRP, CCN2, DRD3, EPHB2, FANCD2, FASN, FOXM1, GNAS, GRIK3, IL6, SERPINE1, IL10, INSR, ITPR1, LEP, CYP4F3, LY6E, LYZ, MAOB, MCM2, ATXN3, NOS2, ACTB, APOE, PAEP, ACHE
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Spondylocamptodactyly Syndrome
Orphanet
Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. Epidemiology This syndrome has been described in five members from three generations of one family.
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Mammary-Digital-Nail Syndrome
Orphanet
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.
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Recessive Mitochondrial Ataxia Syndrome
Orphanet
Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.
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Familial Pancreatic Cancer
Gard
It is sometimes referred to as FPC only when there is not a known hereditary cancer syndrome in an affected family. In familial cases, pancreatic cancer often occurs before age 50 (earlier than other forms of pancreatic cancer). ... A specific genetic cause of FPC (in the absence of a known syndrome) has not been identified. Familial cases of pancreatic cancer due to hereditary conditions may be caused by mutations in any of several genes. ... Currently, only 10-20% of families with FPC will have a mutation identified by genetic testing. Hereditary cancer syndromes and other inherited conditions associated with pancreatic cancer include: BRCA1 hereditary breast and ovarian cancer syndrome BRCA2 hereditary breast and ovarian cancer syndrome Peutz-Jeghers syndrome FAMMM syndrome Lynch syndrome Hereditary pancreatitis In many cases, inheritance of FPC is autosomal dominant; in some cases, is may be multifactorial .
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Norman–roberts Syndrome
Wikipedia
Not to be confused with Roberts syndrome . Norman–Roberts syndrome Other names Microlissencephaly type A, Lissencephaly 2 This condition is inherited in an autosomal recessive manner Specialty Neurology Norman–Roberts syndrome , is a rare form of microlissencephaly caused by a mutation in the RELN gene. [1] A small number of cases have been described. The syndrome was first reported by Margaret Grace Norman and M. ... The disorder is also associated with myopia , nystagmus and generalized seizures. [ citation needed ] Norman–Roberts syndrome is one of two known disorders caused by a disruption of the reelin -signaling pathway.
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Wassel Classification
Wikipedia
Retrieved 27 October 2014 . v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum This article about Orthopedic surgery is a stub .
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Bangstad Syndrome
Wikipedia
Bangstad syndrome Other names Ataxia-diabetes-goiter-gonadal insufficiency syndrome This condition is inherited in an autosomal recessive manner Bangstad syndrome is a severe, inherited congenital disorder associated with abnormalities of the cell membrane . ... "Primordial birdheaded nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter and primary gonadal insufficiency. A new syndrome". Acta Paediatr Scand . 78 (3): 488–93. doi : 10.1111/j.1651-2227.1989.tb11119.x . PMID 2662702 . ^ Bruno Bissonnette; Igor Luginbuehl; Bernard J. Dalens (20 July 2006). Syndromes: rapid recognition and perioperative implications .
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Infectious Intracranial Aneurysm
Wikipedia
External links [ edit ] Classification D v t e Cerebrovascular diseases including stroke Ischaemic stroke Brain Anterior cerebral artery syndrome Middle cerebral artery syndrome Posterior cerebral artery syndrome Amaurosis fugax Moyamoya disease Dejerine–Roussy syndrome Watershed stroke Lacunar stroke Brain stem Brainstem stroke syndrome Medulla Medial medullary syndrome Lateral medullary syndrome Pons Medial pontine syndrome / Foville's Lateral pontine syndrome / Millard-Gubler Midbrain Weber's syndrome Benedikt syndrome Claude's syndrome Cerebellum Cerebellar stroke syndrome Extracranial arteries Carotid artery stenosis precerebral Anterior spinal artery syndrome Vertebrobasilar insufficiency Subclavian steal syndrome Classification Brain ischemia Cerebral infarction Classification Transient ischemic attack Total anterior circulation infarct Partial anterior circulation infarct Other CADASIL Binswanger's disease Transient global amnesia Haemorrhagic stroke Extra-axial Epidural Subdural Subarachnoid Cerebral/Intra-axial Intraventricular Brainstem Duret haemorrhages General Intracranial hemorrhage Aneurysm Intracranial aneurysm Charcot–Bouchard aneurysm Other Cerebral vasculitis Cerebral venous sinus thrombosis v t e Cardiovascular disease (vessels) Arteries , arterioles and capillaries Inflammation Arteritis Aortitis Buerger's disease Peripheral artery disease Arteriosclerosis Atherosclerosis Foam cell Fatty streak Atheroma Intermittent claudication Critical limb ischemia Monckeberg's arteriosclerosis Arteriolosclerosis Hyaline Hyperplastic Cholesterol LDL Oxycholesterol Trans fat Stenosis Carotid artery stenosis Renal artery stenosis Other Aortoiliac occlusive disease Degos disease Erythromelalgia Fibromuscular dysplasia Raynaud's phenomenon Aneurysm / dissection / pseudoaneurysm torso : Aortic aneurysm Abdominal aortic aneurysm Thoracic aortic aneurysm Aneurysm of sinus of Valsalva Aortic dissection Aortic rupture Coronary artery aneurysm head / neck Intracranial aneurysm Intracranial berry aneurysm Carotid artery dissection Vertebral artery dissection Familial aortic dissection Vascular malformation Arteriovenous fistula Arteriovenous malformation Telangiectasia Hereditary hemorrhagic telangiectasia Vascular nevus Cherry hemangioma Halo nevus Spider angioma Veins Inflammation Phlebitis Venous thrombosis / Thrombophlebitis primarily lower limb Deep vein thrombosis abdomen Hepatic veno-occlusive disease Budd–Chiari syndrome May–Thurner syndrome Portal vein thrombosis Renal vein thrombosis upper limb / torso Mondor's disease Paget–Schroetter disease head Cerebral venous sinus thrombosis Post-thrombotic syndrome Varicose veins Gastric varices Portacaval anastomosis Caput medusae Esophageal varices Hemorrhoid Varicocele Other Chronic venous insufficiency Chronic cerebrospinal venous insufficiency Superior vena cava syndrome Inferior vena cava syndrome Venous ulcer Arteries or veins Angiopathy Macroangiopathy Microangiopathy Embolism Pulmonary embolism Cholesterol embolism Paradoxical embolism Thrombosis Vasculitis Blood pressure Hypertension Hypertensive heart disease Hypertensive emergency Hypertensive nephropathy Essential hypertension Secondary hypertension Renovascular hypertension Benign hypertension Pulmonary hypertension Systolic hypertension White coat hypertension Hypotension Orthostatic hypotension