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Klippel-Feil syndrome

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.

Also known as: Klippel-Feil Sequence, Klippel Feil syndrome, Klippel-Feil and Turner syndrome, Klippel-Feil deformity, deafness and facial asymmetry, autosomal dominant Klippel-Feil syndrome, cervical vertebral fusion, congenital dystrophia brevicollis, congenital synostosis of cervical vertebrae

14 clinical trials for this condition and its sub-types.

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Sub-types

Calabro syndrome (0) Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome (0) Klippel-Feil syndrome 1, autosomal dominant (0) Klippel-Feil syndrome 2, autosomal recessive (0) Klippel-Feil syndrome 3, autosomal dominant (0) Wildervanck syndrome (0)

Broader categories

Disease (717) Musculoskeletal system disorder (214) Hereditary disease (188) Human disease (15) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 6 Not yet recruiting 1 Not yet finished but already full! 4 Completed 3
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