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*  Pashayan syndrome - Wikipedia
Pashayan syndrome also known as Pashayan-Prozansky Syndrome, and blepharo-naso-facial syndrome is a rare syndrome. Facial abnormalities characterise this syndrome as well as malformation of extremities. Specific characteristics would be a bulky, flattened nose, where the face has a mask like appearance and the ears are also malformed. A subset of Pashayan syndrome has also been described, known as "cerebrofacioarticular syndrome", "Van Maldergem syndrome'" or "Van Maldergem-Wetzburger-Verloes syndrome". Similar symptoms are noted in these cases as in Pashayan syndrome. "OMIM Entry - 110050 - BLEPHARONASOFACIAL MALFORMATION SYNDROME". omim.org. Retrieved 4 August 2017. Bissonnette, Bruno; Luginbuehl, Igor; Dalens, Bernard J.; Marciniak, Bruno (2006). Bruno Bissonnette, ed. Syndromes: rapid ...
  https://en.wikipedia.org/wiki/Pashayan_syndrome
*  Study Offers Clues to 'Broken Heart Syndrome'
The causes of 'broken heart syndrome' remain a mystery, but doctors will soon have an easier time recognizing and treating this rare
  http://www.medindia.net/news/view_news_main.asp?x=20797
*  Search of: 'Nail-Patella Syndrome' OR 'nail-patella syndrome' - Results by Topic - ClinicalTrials.gov
IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more... ...
  https://clinicaltrials.gov/ct2/results/browse?cond=%22Nail-Patella+Syndrome%22+OR+%22nail-patella+syndrome%22&brwse=cond_alpha_all
*  Russell-Silver Syndrome - Everything2.com
Russell-Silver Syndrome, also known as Russell Syndrome, Silver Syndrome, and/or Silver-Russell Syndrome, is a disorder characterized by short-stature ...
  https://everything2.com/title/Russell-Silver+Syndrome
*  Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q. |...
A newborn child with an unusual facial appearance and multiple abnormalities was found to be trisomic for a large part of 12q as a result of adjacent 1 segregation of a familial translocation, t(9;12) (p24;q21.2). A combination of cytogenetic analysis, clinical features, and enzyme marker studies allows an accurate assessment of the breakpoints. Although trisomic for a considerably larger area of 12q than other reported cases, there are many similar features suggesting that trisomy 12q is a clinically recognisable syndrome. The frequency and mode of segregation of 12q translocations and their implications for genetic counselling are discussed.. ...
  http://jmg.bmj.com/content/20/2/86
*  FG Syndrome 4
FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by {4:Piluso et al., 2003}). The name 'FG' derives from the first description of the disorder (FGS1; {305450}) by {3:Opitz and Kaveggia (1974)}, who named it 'FG syndrome' according to the Opitz system of using initials of patients' surnames. For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 ({305450}). FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. See also the more severe disorder MICPCH ({300749}), an allelic disorder caused by complete loss-of-function mutations in the CASK gene ({6:Tarpey et al., 2009 ...
  http://www.diseaseinfosearch.org/FG+Syndrome+4/2845
*  Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis : Sussex...
The 2p15p16.1 microdeletion syndrome has a core phenotype consisting of intellectual disability, microcephaly, hypotonia, delayed growth, common craniofacial features, and digital anomalies. So far, more than 20 cases of 2p15p16.1 microdeletion syndrome have been reported in the literature; however, the size of the deletions and their breakpoints vary, making it difficult to identify the candidate genes. Recent reports pointed to 4 genes (XPO1, USP34, BCL11A, and REL) that were included, alone or in combination, in the smallest deletions causing the syndrome. Here, we describe 8 new patients with the 2p15p16.1 deletion and review all published cases to date. We demonstrate functional deficits for the above 4 candidate genes using patients' lymphoblast cell lines (LCLs) and knockdown of their orthologs in zebrafish. All genes were dosage sensitive on the basis of reduced protein expression in LCLs. In addition, deletion of XPO1, a nuclear exporter, ...
  http://sro.sussex.ac.uk/60085/
*  amudu: Happy Events Can Spur 'Broken Heart Syndrome'
The research team will now investigate brain activity patterns in the people with "happy heart syndrome" and compare those patterns to those found in people with "broken heart syndrome" to learn more about the interactions between the heart and the brain. For now, it's unclear exactly how a person's emotional states play a role in the development of this heart-muscle weakening condition ...
  http://amudu-gowripalan.blogspot.com/2016/03/happy-events-can-spur-broken-heart.html
*  'Little Brother Syndrome' Audition | The Fatty Acids - TV & Video Auditions |...
Casting a music video 'Little Brother Syndrome.' Company states: 'The Fatty Acids are a Milwaukee band of 6 years now. The video is a sardonic look at the way
  https://www.backstage.com/casting/little-brother-syndrome-37256/
*  Siblings from India don't expect to marry due to 'werewolf syndrome' | New York Post
These three sisters in India have dreams of getting married, but are caught in a nightmare - each is cursed with an extremely rare genetic disorder sometimes...
  https://nypost.com/2012/02/09/siblings-from-india-dont-expect-to-marry-due-to-werewolf-syndrome/
*  Misleading claims of 'cure for Down's syndrome' - NHSUK
The Mail Online suggests there could be a 'cure' for Down's syndrome, saying that scientists have 'discovered a way to reverse the learning difficulties caused by the condition'...
  https://www.nhs.uk/news/genetics-and-stem-cells/misleading-claims-of-cure-for-downs-syndrome/
*  The Role of Imaging in Aortic Dissection and Related Syndromes | JACC: Cardiovascular Imaging
TEE is highly accurate for the detection of acute aortic syndromes as a result of the close proximity of the esophagus to the thoracic aorta and its ability to visualize both ascending and descending aortas and parts of the arch with high spatial resolution in real time. TEE is performed with a 2.5 to 7.5 MHz transducer that is mounted at the end of a gastroscopic probe. Generally, TEE imaging of the aorta begins with the probe behind the left atrium, and the proximal 5 to 10 cm of the ascending aorta is visualized by scanning at a 120° imaging plane. By imaging at a 40° to 60° plane, TEE allows simultaneous short-axis visualization of the aortic cusps and the 3 sinuses. When evaluating the ascending aorta, artifactual echoes are often encountered, but a well-trained echocardiographer should be able to discriminate this from true dissection. A true dissection flap often displays random mobility, especially when the dissection is acute, whereas an artifact ...
  http://www.imaging.onlinejacc.org/content/7/4/406
*  Search of: 'spinocerebellar degenerations' OR 'marinesco-sjogren syndrome' - List Results - ClinicalTrials.gov
To accelerate research into rare disorders by connecting individuals who are interested in research and who have been diagnosed with a rare disorder (or a disorder of unknown prevalence, or who are undiagnosed) with researchers who study rare diseases ...
  https://clinicaltrials.gov/ct2/results?cond=%22spinocerebellar%20degenerations%22%20OR%20%22marinesco-sjogren%20syndrome%22
*  Search of: 'Frasier syndrome' - List Results - ClinicalTrials.gov
To accelerate research into rare disorders by connecting individuals who are interested in research and who have been diagnosed with a rare disorder (or a disorder of unknown prevalence, or who are undiagnosed) with researchers who study rare diseases ...
  https://clinicaltrials.gov/ct2/results?cond=%22Frasier+syndrome%22&show_rss=Y
*  Search of: 'stickler syndrome' - List Results - ClinicalTrials.gov
To accelerate research into rare disorders by connecting individuals who are interested in research and who have been diagnosed with a rare disorder (or a disorder of unknown prevalence, or who are undiagnosed) with researchers who study rare diseases ...
  https://clinicaltrials.gov/ct2/results?cond=%22stickler%20syndrome%22
*  'Faces syndrome' -...
"Faces syndrome" . Le harcèlement scolaire décrypté par la thérapeute Emmanuelle Piquet. ans, les centres chagrin scolaire, afin de les armer face aux attaques qu'ils subissent dans les cours de récréation. Délivrées en trois sessions, ces stratégies de défense se basent sur des jeux
  http://en.natvim.com/search?q=Faces+syndrome
*  Search of: 'Muckle-Wells syndrome' - List Results - ClinicalTrials.gov
Change of the mean MWAS (Muckle-Wells Activity Score) and SCHAS (Schnitzler Activity Score) from the 21-day baseline phase (day -21 to day 0) to the last 21 days of the first 4 weeks initial treatment phase (day 7 to 28) of the study ...
  https://clinicaltrials.gov/ct2/results?cond=%22Muckle-Wells+syndrome%22
*  Search of: 'autoinflammation, lipodystrophy, and dermatosis syndrome' - List Results - ClinicalTrials.gov
To collect long-term clinical and laboratory outcome parameters of the multiorgan inflammatory involvement and/or organ damage in patients with genetically defined or undifferentiated autoinflammatory (immune-dysregulatory) diseases ...
  https://clinicaltrials.gov/ct2/results?cond=%22autoinflammation%2C+lipodystrophy%2C+and+dermatosis+syndrome%22&show_flds=Y
*  EMILY JEAN and KOOLEN DE VRIES SYNDROME [formerly 17q21.31 microdeletion syndrome]: Eyes / MRI Update
After 3 years of many hospital admissions, outpatient appointments and tests we finally received a reason for all of Emily's difficulties. In June 2009 at age 3 1/2 years our precious little girl was diagnosed with a rare genetic syndrome, formerly known as 17q21.31 Microdeletion Syndrome and now also known as Koolen De Vries Syndrome. At the time of diagnosis there were only a handful diagnosed in the UK and approximately 50 people worldwide - information was scarce ...
  http://emily17q.blogspot.com/2010/08/eyes-mri-update.html
*  DMOZ - Health: Conditions and Diseases: Musculoskeletal Disorders: Congenital Anomalies: Dwarfism: Russell Silver Syndrome
Russell-Silver Syndrome is a very rare genetic disorder characterized by growth delays before birth (prenatal or intrauterine growth retardation); overgrowth of one side of the body (hemihypertrophy or asymmetry); unusual characteristic facial features; and other physical abnormalities.
  http://dmoztools.net/Health/Conditions_and_Diseases/Musculoskeletal_Disorders/Congenital_Anomalies/Dwarfism/Russell_Silver_Syndrome/
*  Search of: 'PPM-X syndrome' OR 'Mental Retardation, X-Linked' - Results on Map - ClinicalTrials.gov
Click on a [studies] link to search within your current results for studies in that region. Use the back button to return to this list and try another region ...
  https://clinicaltrials.gov/ct2/results/map?cond=%22PPM-X+syndrome%22+OR+%22Mental+Retardation%2C+X-Linked%22
*  Lynch Syndrome | ACG Patients
The greatest risk factor for having Lynch syndrome is having a relative with this condition. The first-degree relatives of an individual with Lynch syndrome (mother/father, brothers/sisters, and children) have a 50% chance of having the same mutation. Depending on who else in the family has inherited the mutation, more extended relatives such as aunts/uncles, grandparents, grandchildren, and cousins could also have Lynch syndrome.. As an example, Suzie is a 46-year-old woman with colon cancer due to a mutation in the MSH2 gene causing Lynch syndrome. She has two daughters. Her brother has two sons. Both of her parents are still living. Her brother undergoes genetic testing for Suzie's MSH2 mutation (see below) and does not have it. Therefore, he does not have Lynch syndrome and his two children are not at risk of Lynch syndrome. Both of Suzie's daughters are tested, and one is found to have the MSH2 ...
  http://patients.gi.org/topics/lynch-syndrome/
*  Search of: 'Prader-Willi syndrome' - List Results - ClinicalTrials.gov
The rate of success in each of the two groups, evaluated using an X-ray of the left hand and wrist. Success is defined as a difference in the rate of progression of bone maturation of at least 9 months after 18 months of treatment ...
  https://clinicaltrials.gov/ct2/results?cond=%22Prader-Willi+syndrome%22
*  Search of: Recruiting, Not yet recruiting, Available Studies | 'Klinefelter Syndrome' - List Results - ClinicalTrials.gov
Point estimates and 95% CIs for sensitivity, specificity, PPV, and NPV versus birth outcome (trisomy or Unaffected/non-trisomy) for the LDT in the population of pregnancies at mixed-risk for chromosomal ...
  https://clinicaltrials.gov/ct2/results?recr=Open&cond=%22Klinefelter+Syndrome%22&show_flds=Y