Klippel-Feil syndrome
http://purl.obolibrary.org/obo/MONDO_0001029
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. [ https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome ]
Term info
- DOID:10426 (MONDO:equivalentTo)
- OMIMPS:118100 (MONDO:equivalentTo)
- SCTID:5601008 (MONDO:equivalentTo)
- MESH:D007714 (MONDO:equivalentTo)
- NCIT:C98967 (MONDO:equivalentTo)
- ICD9:756.16 (MONDO:i2s)
- ICD10CM:Q76.1 (MONDO:equivalentTo)
- GARD:0010280 (MONDO:equivalentTo)
gard_rare
Usage notes: this class includes both isolated forms and forms that are features of other syndromes
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.
http://identifiers.org/mesh/D007714, https://omim.org/phenotypicSeries/PS118100, http://purl.obolibrary.org/obo/DOID_10426, http://purl.bioontology.org/ontology/ICD10CM/Q76.1, http://identifiers.org/snomedct/5601008, http://purl.obolibrary.org/obo/NCIT_C98967
Klippel-Feil Sequence
congenital dystrophia brevicollis, autosomal dominant Klippel-Feil syndrome, congenital synostosis of cervical vertebrae, cervical vertebral fusion, Klippel Feil syndrome, Klippel-Feil deformity, deafness and facial asymmetry, Klippel-Feil and Turner syndrome
MONDO:0001029
https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome