[…] vertebral fusion autosomal dominant Cervical vertebral fusion congenital Congenital Klippel-Feil segment Fused cervical segments congenital Isolated Klippel-Feil syndrome Klippel-Feil malformation Klippel-Feil sequence Any medical or genetic information present [uniprot.org]

Jankovic is the recipient of many other honors including the American Academy of Neurology (AAN) Movement Disorders Research Award, sponsored by the Parkinson’s Disease Foundation, the Guthrie Family Humanitarian Award, presented by the Huntington’s Disease [books.google.com]

One type is congenital (present at birth), while the others are acquired, meaning thatthe trachea is normal at birth but becomes floppy later in life in response to something else. [academic.oup.com]

Associated dextroscoliosis is present. (7e) The butterfly vertebra is manifested by a sagittal cleft on the axial image (arrow). 8 Figure 8: 67 year-old woman with KFS presenting with neck pain and hand numbness. [radsource.us]

(normally stomach bubble present on left side in abdominal cross section, confirms normal SITUS). [indianhealthjournal.wordpress.com]

Diagnosis of Klippel–Feil syndrome is through imaging, and an extensive workup should be sought to identify different abnormalities once this syndrome is suspected. [mjdrdypu.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment is generally symptomatic and supportive. Management depends on the features and severity in each person, and can be life-long. [rarediseases.info.nih.gov]

*the treatment of KFS itself is dependent upon the extent of the disease, usually surgery to fuse the bones is used as means of a "cure " *many people turn to physical therapy to receive relief from pain :Additional information: Other problems caused [haikudeck.com]

REHABILITATION MANAGEMENT AND TREATMENTS Available or current treatment guidelines There are currently no consensus rehabilitation protocols for KFS. [now.aapmr.org]

The long-term outlook ( prognosis ) for people with Klippel Feil syndrome varies depending on the specific features and severity in each affected person. [rarediseases.info.nih.gov]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

Pregnancy was terminated due to its fatal prognosis. [indianhealthjournal.wordpress.com]

Patients have increased LDL values from birth, and an increased cardiovascular risk, making early diagnosis and treatment imperative for improved prognosis. Three main causative genes have been associated with FH: LDLR, APOB and PCSK9. [clinicalgenome.org]

Interestingly, roughly 3–5% of CMI patients are diagnosed with KFS [23], [45], suggesting a shared genetic etiology between these disorders. [journals.plos.org]

Fewer than 50% patients have the classic triad, although the prevalence of each finding increases in more involved cases. 3 Etiology Variable clinical presentation complicates identification of a definite cause. [now.aapmr.org]

Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. 2004 Jul;(424):183-90. Review. [ghr.nlm.nih.gov]

Other probable etiological factors implicated in causing Iniencephaly are, environmental factors like maternal syphilis, drugs such as clomiphene citrate and sedatives [5]. [indianhealthjournal.wordpress.com]

Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies. Am J Med Genet 1986;23:903-18. 17. Brill CB, Peyster RG, Keller MS, Galtman L. [mjdrdypu.org]

Alaqeel, Children Hospital, King Fahad Medical City, Riyadh, Saudi Arabia Journal Journal ID (nlm-ta): Pan Afr Med J Journal ID (iso-abbrev): Pan Afr Med J Journal ID (publisher-id): PAMJ Title: The Pan African Medical Journal Publisher: The African Field Epidemiology [scienceopen.com]

Classification of congenitally fused cervical patterns in Klippel-Feil patients: Epidemiology and role in the development of cervical spine-related symptoms. Spine (Phila Pa 1976) 2006;31:E798-804. 3. Samartzis D, Herman J, Lubicky JP, Shen FH. [mjdrdypu.org]

Epidemiology including risk factors and primary prevention The exact incidence and prevalence are unknown because of unavailability of population screening studies. [now.aapmr.org]

Epidemiology The reported frequency of KFS is variable, from between 1/233 to 1/42,000 births and found in 0.5% of spinal radiographs. 1,3 Occurrence in females is greater than males. 2,5 Clinical Presentation Patients with mild cases of KFS are often [radsource.us]

Genetic advances may help reveal the causes and assist in early diagnosis, prevention, and treatment in the future. 3. [now.aapmr.org]

CONCLUSIONS: These parents should be given adequate emotional support and counselled about recurrence risk,need for periconceptional folic acid supplementation and an early ultrasound scanning at 11 weeks during next pregnancy, to prevent any delay in [indianhealthjournal.wordpress.com]

Arthroplasty may be performed in selected patients with Klippel-Feil syndrome in order to restore motion and to prevent degeneration of the adjacent segment by reducing hypermobility(3). [ispub.com]

This group was considered the most difficult to identify clinically and, therefore, the most prone to develop long-term complications that were otherwise potentially preventable. [ajnr.org]

Clinical Actionability Tools Clinical Actionability tools support the curation process is to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known [clinicalgenome.org]