Details of Disease

General Information of Disease (ID: DISRVCYV)

• Disease Name: Klippel-Feil syndrome
• Synonyms: congenital synostosis of cervical vertebrae; congenital dystrophia brevicollis; cervical vertebral fusion; autosomal dominant Klippel-Feil syndrome; Klippel-Feil deformity, deafness and facial asymmetry; Klippel-Feil and Turner syndrome; Klippel Feil syndrome; Klippel-Feil Sequence
• Definition: A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.|Usage notes: this class includes both isolated forms and forms that are features of other syndromes
• Disease Hierarchy:
  DISPPN0O: Musculoskeletal disorder
  DISYKSRF: Genetic disease
  DISRVCYV: Klippel-Feil syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0001029
  MESH ID: D007714
  UMLS CUI: C0022738
  MedGen ID: 9645
  HPO ID: HP:0004602
  SNOMED CT ID: 388981000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GDF6	OTERXWJU	Limited	Biomarker	[1]
GDF3	OTD3KGJK	Strong	Biomarker	[1]
MEOX1	OTJEMT2D	Strong	Genetic Variation	[2]
PAX1	OT0Y3MIM	Strong	Biomarker	[3]

References

• [1] Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A. 2015 Nov;167A(11):2795-9. doi: 10.1002/ajmg.a.37263. Epub 2015 Aug 4.
• [2] Skeletal malformations of Meox1-deficient zebrafish resemble human Klippel-Feil syndrome.J Anat. 2018 Dec;233(6):687-695. doi: 10.1111/joa.12890. Epub 2018 Oct 2.
• [3] Mutations in PAX1 may be associated with Klippel-Feil syndrome. Eur J Hum Genet. 2003 Jun;11(6):468-74. doi: 10.1038/sj.ejhg.5200987.