Klippel-Feil syndrome
"Klippel-Feil syndrome". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 2018-08-18. "Klippel-Feil ... Klippel-Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by ... Online Mendelian Inheritance in Man (OMIM): Klippel-Feil Syndrome 1, Autosomal Dominant; KFS1 - 118100 "Segmentation syndrome 1 ... André Feil's thesis on the origin of the Klippel-Feil syndrome and a social transformation of medicine". Neurosurgical Focus. ...
Congenital vertebral anomaly
Klippel-Feil syndrome. The sacrum is a normal block vertebra.[citation needed] Evidence for block vertebrae found in the fossil ... Gorlin syndrome, fetal pyelectasis 3, Jarcho-Levin syndrome, OEIS complex, VACTERL association. The probable cause of ... It can lead to an abnormal angle in the spine, there are certain syndromes associated with block vertebrae; for example, ... Back pain associated with lumbosacral transitional vertebrae (LSTV) is known as Bertolotti's syndrome. One study found that ...
Retrospective diagnosis
Did Tutankhamun have Klippel-Feil syndrome? Did Alfred the Great have Crohn's disease? Did botulism cause the religious visions ... Otaiku AI (April 2018). "Did René Descartes Have Exploding Head Syndrome?". Journal of Clinical Sleep Medicine. 14 (4): 675-8. ... Sacks O (2001). "Henry Cavendish: an early case of Asperger's syndrome?". Neurology. 57 (7): 1347. doi:10.1212/wnl.57.7.1347. ... Henry Cavendish: An early case of Asperger's syndrome? Archived 1 September 2007 at the Wayback Machine Neurological Foundation ...
Musculoskeletal abnormality
An example is Klippel-Feil syndrome.[citation needed] Although present at birth, some only become obvious postnatally. " ...
PAX1
Mutations in the human gene may contribute to the condition of Klippel-Feil syndrome, which is the failure of the vertebrae to ... McGaughran JM, Oates A, Donnai D, Read AP, Tassabehji M (2003). "Mutations in PAX1 may be associated with Klippel-Feil syndrome ... 2004). "Mutations in PAX1 may be associated with Klippel-Feil syndrome". Eur. J. Hum. Genet. 11 (6): 468-74. doi:10.1038/sj. ... 2004). "Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review". Am ...
Srb's anomaly
... is commonly seen in people with Klippel-Feil syndrome. Yochum, Terry R. (2004). essentials of skeletal radiology ... Syndromes, All stub articles, Musculoskeletal system stubs, Disease stubs, Human reproduction stubs). ...
Cervicocranial syndrome
The mutation in these genes can result in Klippel-Feil syndrome. As a result of having congenital Klippel-Feil syndrome, the ... Cervicocranial syndrome or (Craniocervical Junction Syndrome: CCJ syndrome) is a neurological illness. It is a combination of ... Some examples of diseases that could result in cervicocranial syndrome are Chiari disease, Klippel-Feil malformation ... "Surgical Treatment of Occipitocervical Dislocation with Atlas Assimilation and Klippel-Feil Syndrome Using Occipitalized C1 ...
Gladstone Small
Small has Klippel-Feil syndrome, a genetic condition of the neck. Small was born in Barbados, and moved to England shortly ... Small has Klippel-Feil syndrome, a rare congenital condition whereby the vertebrae in the neck are fused. His life story was ...
Dysostosis
Examples include craniofacial dysostosis, Klippel-Feil syndrome, and Rubinstein-Taybi syndrome. It is one of the two categories ...
GDF6
2008). "Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome". Hum. Mutat. 29 (8): ...
Sprengel's deformity
It may be indicated to perform a genetic analysis, as the deformity may occur under other conditions (see Klippel-Feil syndrome ... The deformity is associated with the following conditions:- Klippel-Feil syndrome (most common) congenital scoliosis, ... There is a high correlation between Sprengel's deformity and Klippel-Feil syndrome.[citation needed] Diagnosis is clinical and ...
Webbed neck
It is a feature of Turner syndrome (only found in girls) and Noonan syndrome, as well as the rarer Klippel-Feil syndrome, or ... "Modified Z-plasty repair of webbed neck deformity seen in Turner and Klippel-Feil syndrome". Cleft Palate Craniofac. J. 39 (3 ... Miller LB, Kanter M, Wolfort F (1990). "Treatment of webbed neck in Turner's syndrome with tissue expansion". Ann Plast Surg. ... Qian JG, Wang XJ (2007). "Noonan syndrome and correction of the webbed neck". Journal of Plastic, Reconstructive & Aesthetic ...
Midnight Terror Cave
Kieffer, C. L. (2017). "Sacrifice of the Social Outcasts: Two Cases of Klippel-Feil Syndrome at Midnight Terror Cave, Belize". ...
Vertebral column
Another, though rare, congenital disease is Klippel-Feil syndrome, which is the fusion of any two of the cervical vertebrae. ...
VACTERL association
Also, VACTERL association can be linked to other similar conditions such as Klippel Feil and Goldenhar syndrome including ... Baller-Gerold syndrome CHARGE syndrome Currarino syndrome DiGeorge syndrome Fanconi anemia Feingold syndrome Fryns syndrome ... Oculo-auriculo-vertebral syndrome Opitz G/BBB syndrome Holt-Oram syndrome Pallister-Hall syndrome Townes-Brocks syndrome ... syndrome Absent radius CHARGE Association Holt-Oram syndrome Feingold syndrome Pallister-Hall syndrome Townes-Brocks syndrome ...
Tethered spinal cord syndrome
TCS may also be related to Ehlers-Danlos syndrome, or Klippel-Feil syndrome, which should also be screened for upon a positive ... Kyphosis Scoliosis Brain herniation Spina Bifida Ehlers-Danlos syndrome Klippel-Feil syndrome Syringomyelia Tethered spinal ... "Tethered spinal cord syndrome". Answers.com.[unreliable medical source?] "Facts on Tethered Cord Syndrome". Spinabifida. ... Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord. ...
Maurice Klippel
... (30 May 1858 - 20 July 1942) was a French physician, for whom the conditions Klippel-Feil syndrome and Klippel- ... Trénaunay-Weber syndrome are named. He was born in Mulhouse, Haut-Rhin and studied medicine in Paris, earning his doctorate in ... Maurice Klippel - bibliography at Who Named It doctor/622 at Who Named It? v t e (Articles with short description, Short ...
Death of Alexander the Great
... which could be associated with Klippel-Feil syndrome, a rare congenital scoliotic disorder. His physical deformities and ... Some have speculated that he suffered from Guillain-Barré syndrome, which typhoid fever can lead to when complicated with other ... Another theory moves away from disease and hypothesizes that Alexander's death was related to a congenital scoliotic syndrome. ... Hall, Katherine (2018). "Did Alexander the Great Die from Guillain-Barré Syndrome?". Ancient History Bulletin. 32 (3-4). Robert ...
Duane syndrome
... can be associated with other problems including cervical spine abnormalities Klippel-Feil syndrome, Goldenhar ... eye retraction syndrome, retraction syndrome, congenital retraction syndrome and Stilling-Türk-Duane syndrome. The ... Around 10-20% of cases are familial; these are more likely to be bilateral than non-familial Duane syndrome. Duane syndrome has ... Duane syndrome is most probably a miswiring of the eye muscles, causing some eye muscles to contract when they shouldn't and ...
Congenital mirror movement disorder
Klippel-Feil Syndrome Dystonia Cerebral palsy Parkinson's disease Epilepsies Amyotrophic lateral sclerosis Kallman's syndrome ... Alien hand syndrome Obsessive compulsive disorder Schizophrenia Congenital hemiplegia Moebius syndrome Seckel syndrome ... Wildervanck syndrome Polymicrogyria The specific molecular mechanism that underpins this movement disorder is not well known. ...
Klippel
French physician Klippel-Feil syndrome Klippel-Trénaunay-Weber syndrome Robert Klippel (1920-2001), Australian constructivist ... Klippel is a German surname. Notable people with the surname include: Maurice Klippel (1858-1942), ... sculptor and teacher Christoph Klippel (born 1986), German footballer This page lists people with the surname Klippel. If an ...
Bone disease
Hereditary multiple exostoses Klippel-Feil syndrome Metabolic bone disease Multiple myeloma Nail-patella syndrome Osteitis ... Ambe Avascular necrosis or Osteonecrosis Arthritis Bone spur (Osteophytes) Craniosynostosis Coffin-Lowry syndrome Copenhagen ... disease Fibrodysplasia ossificans progressiva Fibrous dysplasia Fong disease (or Nail-patella syndrome) Fracture Giant cell ...
List of neurological conditions and disorders
15 Joubert syndrome Karak syndrome Kearns-Sayre syndrome Kinsbourne syndrome Kleine-Levin syndrome Klippel Feil syndrome Krabbe ... Febrile seizures Fisher syndrome Fibromyalgia Foville's syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome ... syndrome Shingles Shy-Drager syndrome Sjögren's syndrome Sleep apnea Sleeping sickness Slurred speech Snatiation Sotos syndrome ... syndrome Rhythmic movement disorder Romberg syndrome Savant syndrome Saint Vitus dance Sandhoff disease Sanfilippo syndrome ...
KFS
... an American print syndication company Klippel-Feil syndrome, a rare congenital condition Knives, Forks and Spoons Press, a ...
Wildervanck syndrome
... or cervico-oculo-acoustic syndrome comprises a triad of: Duane syndrome Klippel-Feil anomaly (fused ... "Orphanet: Wildervanck syndrome". www.orpha.net. Retrieved 28 April 2019. "OMIM Entry-314600 - WILDERVANCK SYNDROME". " ... ISBN 978-1-4160-2999-1. Mehta, B; Nayak, C; Savant, S; Amladi, S (2007). "Goldenhar syndrome with unusual features". Indian ... v t e (Articles with short description, Short description is different from Wikidata, Syndromes affecting hearing, Medical ...
Tongue splitting
... orofaciodigital syndrome 1, Ellis-Van Creveld syndrome, Goldenhar syndrome, and Klippel-Feil syndrome. Deliberate tongue ... A rare feature associated with infants of diabetic mother syndrome. American Journal of Medical Genetics, Part A, 143(17), 2035 ... "Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI". Orphanet Journal of Rare Diseases. 7: 4. doi: ...
Ligamentous laxity
Down syndrome, Klippel-Feil syndrome, juvenile idiopathic arthritis, Larsen syndrome, Marfan syndrome, osteogenesis imperfecta ... such as Marfan syndrome and Ehlers-Danlos syndrome types I-III, VII, and XI), the joint laxity usually is apparent before ... However, age of onset and extent of joint laxity are variable in Marfan syndrome, and joint laxity may be confined to the hands ... However, if there is widespread laxity of other connective tissue, then this may be a sign of Ehlers-Danlos syndrome, ...
List of syndromes
... syndrome Kindler syndrome King-Kopetzky syndrome Kleine-Levin syndrome Klinefelter syndrome Klippel-Feil syndrome Klippel- ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
List of MeSH codes (C05)
Klippel-Feil syndrome MeSH C05.116.099.370.652 - orofaciodigital syndromes MeSH C05.116.099.370.797 - Rubinstein-Taybi syndrome ... Hajdu-Cheney syndrome MeSH C05.116.099.105 - basal-cell nevus syndrome MeSH C05.116.099.343 - dwarfism MeSH C05.116.099.343.110 ... Felty's syndrome MeSH C05.550.114.154.683 - rheumatoid nodule MeSH C05.550.114.154.774 - Sjögren syndrome MeSH C05.550.114.154. ... short rib-polydactyly syndrome MeSH C05.660.585.620 - proteus syndrome MeSH C05.660.585.800 - syndactyly MeSH C05.660.585.800. ...
List of OMIM disorder codes
PIK3CA Keutel syndrome; 245150; MGP Kindler syndrome; 173650; KIND1 Kleefstra syndrome; 610253; EHMT1 Klippel-Feil syndrome, ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...