Information
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PraderWilli syndrome (abbreviated PWS) is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome 15 (q 11-13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. PWS has the sister syndrome Angelman syndrome that includes maternally deleted and paternally imprinted genes in the same genetic region. Curfs and Frym (1992) conducted research into the varying degrees of learning disability found in Prader Willi Syndrome (PWS). Behavioral PraderWilli syndrome is also frequently associated with an extreme and insatiable appetite, often resulting in morbid obesity. PraderWilli syndrome patients have high ghrelin levels, which are thought to directly contribute to the increased appetite, hyperphagia, and obesity seen in this syndrome. Deletion of the same region on the maternal chromosome causes Angelman syndrome (AS). Studies of human and mouse model systems have shown that deletion of the 29 copies of the C/D box snoRNA SNORD116 (HBII-85) has been shown to be the primary cause of PraderWilli syndrome. Currently, the syndrome is diagnosed through genetic testing; The mainstay of diagnosis is genetic testing, specifically DNA-based methylation testing to detect the absence of the paternally contributed PraderWilli syndrome/Angelman syndrome (PWS/AS) region on chromosome 15q11-q13. Because PWS infants have a higher rate of difficulties at birth (including breech delivery and respiratory delay) birth-related injuries and oxygen deprivation may complicate the genetic handicaps, resulting in atypical PWS. Differential diagnosis PraderWilli syndrome is often misdiagnosed as a variety of other syndromes due to many in the medical community's unfamiliarity with PWS. Sometimes it is misdiagnosed as Down syndrome, simply because of the relative frequency of Down syndrome compared to PWS. Also, marked obesity can occur in Down syndrome due to behavioral problems. Adding to the confusion, parents of children who already carry a diagnosis of PraderWilli syndrome may tell friends, family, and even physicians and nurses that their child has Down syndrome because more people have heard of that condition. Treatment PraderWilli syndrome has no cure, however, several treatments are in place to lessen the condition's symptoms. The largest problem associated with the syndrome is severe obesity. Society and culture PraderWilli syndrome appeared in the UK media in July 2007 when Channel 4 aired a program Can't Stop Eating, surrounding the everyday lives of two Prader-Willi patients, Joe and Tamara. A sufferer from Prader-Willi Syndrome featured in the episode entitled 'Dog Eat Dog' of the television series CSI: Crime Scene Investigation (aired on November 24, 2005). External links
Patient with the syndrome showing characteristic facial appearance, with elongated face, prominent nose, and smooth philtrum
patient with the syndrome, showing characteristic facial appearance, with elongated face, prominent nose, and smooth philtrum
Hyperphagia (over-eating) from age 2 8 years. Note change from feeding difficulties in infancy
Learning disabilities/borderline intellectual functioning (but some cases of average intelligence)
Down syndrome (21) Edwards syndrome (18) Patau syndrome (13) Trisomy 9 Warkany syndrome 2 (8) Trisomy 22/Cat eye syndrome (22) Trisomy 16
Wolf-Hirschhorn syndrome (4) Cri du chat/Chromosome 5q deletion syndrome (5) Williams syndrome (7) Jacobsen syndrome (11) Miller-Dieker syndrome/Smith-Magenis syndrome (17) DiGeorge syndrome (22) genomic imprinting (Angelman syndrome/PraderWilli syndrome (15)) 18q deletion syndrome
Klinefelter's syndrome (47,XXY) 48,XXYY 48,XXXY 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) 48,XXXX 49,XXXXX 47,XYY 48,XYYY 49,XYYYY 46,XX/XY
Burkitt's lymphoma t(8 MYC;14 IGH) Follicular lymphoma t(14 IGH;18 BCL2) Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH) Anaplastic large cell lymphoma t(2 ALK;5 NPM1) Acute lymphoblastic leukemia
PraderWilli syndrome (abbreviated PWS) is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome 15 (q 11-13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. PWS has the sister syndrome Angelman syndrome that includes maternally deleted and paternally imprinted genes in the same genetic region. PraderWilli syndrome patients have high ghrelin levels, which are thought to directly contribute to the increased appetite, hyperphagia, and obesity seen in this syndrome. Differential diagnosis PraderWilli syndrome is often misdiagnosed as a variety of other syndromes due to many in the medical community's unfamiliarity with PWS. Sometimes it is misdiagnosed as Down syndrome, simply because of the relative frequency of Down syndrome compared to PWS. Adding to the confusion, parents of children who already carry a diagnosis of PraderWilli syndrome may tell friends, family, and even physicians and nurses that their child has Down syndrome because more people have heard of that condition. External links
Patient with the syndrome showing characteristic facial appearance, with elongated face, prominent nose, and smooth philtrum
patient with the syndrome, showing characteristic facial appearance, with elongated face, prominent nose, and smooth philtrum
Hyperphagia (over-eating) from age 2 8 years. Note change from feeding difficulties in infancy
Learning disabilities/borderline intellectual functioning (but some cases of average intelligence)
Down syndrome (21) Edwards syndrome (18) Patau syndrome (13) Trisomy 9 Warkany syndrome 2 (8) Trisomy 22/Cat eye syndrome (22) Trisomy 16
Wolf-Hirschhorn syndrome (4) Cri du chat/Chromosome 5q deletion syndrome (5) Williams syndrome (7) Jacobsen syndrome (11) Miller-Dieker syndrome/Smith-Magenis syndrome (17) DiGeorge syndrome (22) genomic imprinting (Angelman syndrome/PraderWilli syndrome (15)) 18q deletion syndrome
Klinefelter's syndrome (47,XXY) 48,XXYY 48,XXXY 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) 48,XXXX 49,XXXXX 47,XYY 48,XYYY 49,XYYYY 46,XX/XY
Burkitt's lymphoma t(8 MYC;14 IGH) Follicular lymphoma t(14 IGH;18 BCL2) Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH) Anaplastic large cell lymphoma t(2 ALK;5 NPM1) Acute lymphoblastic leukemia
(Disease / Disorder / Illness, Syndrome / Sequence, Symptom / Sign, Injury, etc.)
Infectious disease/Infection: Bacterial disease (G+, G-) Virus disease Parasitic disease (Protozoan infection, Helminthiasis, Ectoparasitic infestation) Mycosis Zoonosis
Respiratory disease (Obstructive lung disease, Restrictive lung disease, Pneumonia)
Stomatognathic disease (Tooth disease) Digestive disease (Esophageal, Stomach, Enteropathy, Liver, Pancreatic)
Musculoskeletal disorders: Myopathy Arthropathy Osteochondropathy (Osteopathy, Chondropathy)
Urologic disease (Nephropathy, Urinary bladder disease) Male genital disease Breast disease Female genital disease
Bone fracture Joint dislocation Sprain Strain Subluxation Head injury Chest trauma Poisoning
Among the ones listed below there were also khovanets (as domovoi), dolia (fate), polyovyk or polevoi (field spirit), perelesnyk (spirit of seduction), lesovyk or leshyi (woodland spirit), blud (wanderer), mara (specter, spirit of confusion), chuhaister (forest giant), mavka or niavka (forest nymphs), potoplenytsia (drowned maiden, wife of vodianyk), vodianyk or vodyanoy (water spirit, aka potoplenyk), bolotianyk (swamp spirit), bisytsia (she-devil), potercha (spirit of dead, unbaptized child), nichnytsia (night spirit), mamuna (demoness), nechysta syla (all the evil), scheznyk (vanisher), didko, antypko, antsybolot, aridnyk (other names for evil spirits), and many, many others.
Dabog Jarilo Morana Perun iva Svantevit Svarog/Svaroi Triglav Veles Zaria Zorya
Belobog Berehynia Berstuk Chernobog Dodola Devana Dzydzilelya Hors Flins Karewit Koliada Kupala Lada Mat Zemlya Mokosh Owiena Porenut Porewit Porvata Radigost Rod Rugiewit Stribog Zirnitra Zota Baba
Alyosha Popovich Bash Chelik Burislav Dobrynya Nikitich Ilya Muromets Ivan Tsarevich Lech, Czech and Rus Libue Nikita the Furrier Popiel Prince Marko Sadko Svyatogor Vasilisa
Alkonost Cikavac Firebird Fern flower Gamayun Ispolin Kolobok Raskovnik Simargl Sirin Zmey
Ala Baba Yaga Bagiennik Black Arab Bannik Bies Blud Boginki Bukavac Chort Dola Domovoi Drekavac Dukljan German Karzeek Kikimora Koschei Lady midday Leshy Likho Likhoradka Ovinnik Polevik Psoglav Rusalka Shishiga Samodiva Skrzak Solovey-Razboynik Stuha Sudice Topielec Vampir Vesna Vila Vodyanoy Zduha
Films based on Slavic mythology Polish folk beliefs Russian traditions and superstitions Ukrainian folklore Book of Veles
PraderWilli syndrome (abbreviated PWS) is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome 15 (q 11-13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. PWS has the sister syndrome Angelman syndrome that includes maternally deleted and paternally imprinted genes in the same genetic region. Differential diagnosis PraderWilli syndrome is often misdiagnosed as a variety of other syndromes due to many in the medical community's unfamiliarity with PWS. External links
Patient with the syndrome showing characteristic facial appearance, with elongated face, prominent nose, and smooth philtrum
patient with the syndrome, showing characteristic facial appearance, with elongated face, prominent nose, and smooth philtrum
Down syndrome (21) Edwards syndrome (18) Patau syndrome (13) Trisomy 9 Warkany syndrome 2 (8) Trisomy 22/Cat eye syndrome (22) Trisomy 16
Wolf-Hirschhorn syndrome (4) Cri du chat/Chromosome 5q deletion syndrome (5) Williams syndrome (7) Jacobsen syndrome (11) Miller-Dieker syndrome/Smith-Magenis syndrome (17) DiGeorge syndrome (22) genomic imprinting (Angelman syndrome/PraderWilli syndrome (15)) 18q deletion syndrome
Klinefelter's syndrome (47,XXY) 48,XXYY 48,XXXY 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) 48,XXXX 49,XXXXX 47,XYY 48,XYYY 49,XYYYY 46,XX/XY
Burkitt's lymphoma t(8 MYC;14 IGH) Follicular lymphoma t(14 IGH;18 BCL2) Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH) Anaplastic large cell lymphoma t(2 ALK;5 NPM1) Acute lymphoblastic leukemia