Klippel-Feil Syndrome (KFS)

Alias:

Congenital Dystrophia Brevicollis

Cervical Vertebral Fusion

Cervical Fusion Syndrome

Klippel-Feil Deformity

Klippel-Feil Deformity, Deafness and Facial Asymmetry

Congenital Synostosis of Cervical Vertebrae

Klippel-Feil Syndrome, Autosomal Dominant

Autosomal Dominant Klippel-Feil Syndrome

Cervical Vertebral Fusion Syndrome

Vertebral Cervical Fusion Syndrome

Klippel-Feil and Turner Syndrome

Dystrophia Brevicollis Congenita

Isolated Klippel-Feil Syndrome

Fusion of Cervical Vertebrae

Klippel-Feil Malformation

Klippel-Feil Sequence

Kfs

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Klippel-Feil Syndrome, also known as congenital dystrophia brevicollis, is related to klippel-feil syndrome 1, autosomal dominant and klippel-feil syndrome 2, autosomal recessive. An important gene associated with Klippel-Feil Syndrome is MYO18B (Myosin XVIIIB), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Gastrulation. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and bone, and related phenotypes are growth/size/body region and limbs/digits/tail

Related ID：

MALACARDS：KLP003

MESH：D007714

ICD11：2139186992