There is a rare genetic disorder called Klippel-Feil syndrome (KFS) that affects the spine's development. The disorder occurs when two or more cervical vertebrae fuse together from birth. A short, stiff neck, limited range of motion, abnormal spine curvatures, respiratory problems, and other complications can result from this. It is also possible for KFS to affect other parts of the body, including the heart, kidneys, ears, eyes, and mouth.
The exact cause of KFS is unknown, but it is believed that it results from a problem with the division of the tissue that forms the vertebrae during the early stages of pregnancy. It has been identified that three genes, if mutated, are associated with KFS. There are three genes associated with KFS: GDF6, GDF3, and MEOX1. A KFS can also be caused by another disorder, such as fetal alcohol syndrome, or a separate congenital disorder, such as Goldenhar syndrome or hemifacial microsomia.
The symptoms of KFS vary depending on the number and location of the fused vertebrae, and the involvement of other body parts. The most common symptoms are:
A short neck
A low hairline at the back of the head
A limited range of motion with the neck
Neck and back pain
Headaches
Other possible symptoms include:
Torticollis (crooked neck with head and neck tipped to opposite sides)
Scoliosis (a curve in the spine due to fusions)
Spina bifida (when the spinal cord does not fully close in the womb)
Webbed fingers
A cleft palate (when the roof of the mouth has an opening leading up to the nose)
Hearing problems or deafness due to structural problems in the ears
Respiratory problems
Problems with the kidneys, ribs, or heart
Sprengel deformity (when one or both shoulder blades are underdeveloped and located higher up on the back)
KFS can sometimes be detected during pregnancy by an ultrasound, but it is often diagnosed after birth or during childhood. The diagnosis depends on the physical examination of the neck and spine, as well as any other symptoms. X-rays, CT scans, and MRI scans can confirm the fusion of the vertebrae and reveal any other problems in the spine and other organs. The mutations in KFS-related genes can also be identified through genetic tests.
There is no cure for KFS, but the treatment aims to relieve the symptoms and prevent complications. The treatment depends on the severity and type of the condition, and may include:
Physical therapy to improve the mobility and strength of the neck and spine, and to prevent stiffness and pain
Surgery to correct the fusion of the vertebrae, the curvature of the spine, or the problems in other organs
Bracing to support the spine and prevent further deformity
Hearing aids to help with hearing loss
Respiratory support to help with breathing difficulties
Medications to manage pain, inflammation, or infections
Dental care to treat the cleft palate or other oral problems
KFS cannot be prevented, as it is a genetic disorder that occurs before birth. However, some steps can be taken to reduce the risk of complications and improve the quality of life of people with KFS. These include:
Avoiding activities that can injure the neck or spine, such as contact sports, diving, or heavy lifting
Wearing a helmet and a seat belt when riding a bike or a car
Following the doctor’s recommendations for physical therapy, surgery, or other treatments
Having regular check-ups to monitor the condition of the spine and other organs
Seeking support from family, friends, or professional counselors to cope with the emotional and social challenges of living with KFS
