Klippel-Feil syndrome (KFS) is a rare genetic bone disorder where at least two vertebrae in the neck are fused together from birth, there is normally a cartilage (cartilage is the specialised tissue that serves as a buffer or cushion at joints) between the bones there is lack of cartilage instead the bones are fused together.
The spinal column or backbone is made up of 33 irregularly-shaped bones known as vertebrae. These bones are divided into different categories.
The first seven vertebrae, beginning at the base of the skull, are known as the cervical vertebrae.
KFS primarily affects the cervical vertebrae.
All of the normal cervical (neck), thoracic (back), and lumbar (lower back) vertebrae are separated by cartilage. When instead of cartilage, the vertebrae are joined together with continuous bone, it is called “fusion”.
There are four types of fusion:
Type I
The vertebrae are fused into blocks (multiple amounts of vertebrae fused into one) in the upper back. presenting with C1-2 fusion, the very short neck and recessive inheritance of type I, II or III fusion patterns.
Type II
Fusion involving one or two pairs of vertebrae in the cervix vertebrae.
Autosomal dominant with the most anterior fusion at C2-3 in association with type I, II or III fusion patterns.
Type III
Fusion of vertebrae of the neck as well as vertebrae of the upper or lower back.
Recessive or has reduced penetrance of isolated fusions between any of the cervical vertebrae except C1-2
KFS Classes (KF1-4)
Related to Wildervanck syndrome is a rare genetic disorder that may be detected during infancy. The disorder is characterised by KFS; hearing impairment due to failed transmission of sound impulses from the inner ear to the brain (sensorineural deafness). it is beleived it only affects females and also can cause face not to appear symmetrical, i.e. one eye can be higher than the other.
Related to Duane syndrome in which there are abnormalities of certain eye (ocular) movements.
Duane syndrome is primarily characterised by limitation or absence of certain horizontal eye movements; retraction or “drawing back” of the eyeball into the eye cavity (orbit) upon looking inward.
Cause
Researchers have determined that some cases of KFS are associated with mutations of the GDF6 on chromosome 8 ,GDF3, and MEOX1 gene.
In many individuals with KFS, the condition appears to occur randomly for unknown reasons (sporadically).
In other cases, KFS may be inherited as an autosomal dominant or autosomal recessive trait.
Family history autosomal recessive disorder (Both parents who are carriers of the recessive genes responsible and can cause a 25% chance of their sibling getting this condition)
If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting this condition), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected).
Fetal alcohol syndrome – (when a pregnant women drinks alcohol during pregnancy causing growth retardation, facial abnormalities, and central nervous system dysfunction)
Side effect to a separate congenital disease for example:
Torticollis (crooked neck with head and neck tipped to opposite sides)?
Scoliosis (a curve in the spine due to fusions; approximately 30% of those with KFS have a skeletal abnormality)?
Spina bifida (when the neural tube that houses the spinal cord does not fully close in utereo)?
Bone and joint movement problems and/or difficulty using arms and/or body and/or legs and/or lack of stamina and/or walking difficulties and/or crawling difficulties and/or rolling over difficulties?
Webbed fingers?
Heart (cardiac) defects/atrial septal defect (‘hole in the heart’):
Short of breath and/or breathing difficulties (whether after exercise or not) and/or wheezing?
Regular and reoccurring chest infections?
Heart palpitations and/or irregular heartbeats?
Absent rib(s) and other rib defects including cervical ribs?
Shoulder weakness (Sprengel deformity -one or both shoulder blades are underdeveloped and are located higher up on the back)?
Limited movement of the arm on the affected side?
Development of a lump at the base of the neck due to elevation of the shoulder blade?
Abnormalities of the kidneys/Pain in pelvis area and/or lower back and/or intense pain in the back or side (or moving pain from back to side) or in groin area?
Incontinence?
Abnormalities of the penis (opening of penis in wrong place), testicles (failure of testicles to fall to right position), or vagina (Blockage of the vagina)/Underdevelopment or malformation of genitals and urinary tract?
Tuft of hair or dimple over the underlying abnormality?
Complications /Information to beware of/General tips:
Casamassima-Morton-Nance syndrome (spinal problems and abnormalities of the penis, testicles, or vagina/ Underdevelopment or malformation of genitals and urinary tract)
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Detailed Information
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