Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Klippel-Feil syndrome is a rare disorder, initially reported in 1912 by Maurice Klippel and Andre Feil from France,[1] characterized by the congenital fusion of any 2 of the 7 cervical vertebrae.
[2] Autosomal dominant inheritance is especially associated with C2-C3 fusion. Autosomal recessive inheritance is especially associated with C5-C6 fusion
It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.
The most common signs of the disorder are a short neck, low hairline at the back of the head, and restricted mobility of the upper spine.
Associated abnormalities may include:
The disorder also may be associated with abnormalities of:
[tubepress mode=’tag’, tagValue=’Klippel-Feil syndrome’]