Klippel-Feil Syndrome

The pediatric orthopedic specialists with Norton Children’s Orthopedics of Louisville (COOL), affiliated with the UofL School of Medicine, are the foremost providers of pediatric orthopedic care in Louisville, Kentucky, and Southern Indiana. Our fellowship-trained pediatric orthopedic specialists provide specialized care for children with Klippel-Feil syndrome.

What Is Klippel-Feil Syndrome?

Klippel-Feil syndrome is a rare bone disorder in which two or more bones in the neck fuse together. Children with the condition may have:

  • A short, webbed-looking neck
  • Lower range of motion in the head and neck
  • A lower hairline in the back of the head

Most children with the condition will have only one or two of these characteristics; less than half have all three. Children with this condition also may have fusions in the thoracic spine that cause scoliosis or kyphosis, or both.

Klippel-Feil Syndrome Causes

The cause of the condition is unknown, but research has linked the condition to mutations in the genes GDF6 or GDF3. Children are born with the condition, but it can be undetected if the symptoms are minimal. Some children can go undiagnosed until an accident causes symptoms or pain.

This condition can occur with other conditions, such as fetal alcohol syndrome, Goldenhar syndrome, and abnormal growth of the arms or legs.

Klippel-Feil Syndrome Symptoms

Klippel-Feil syndrome symptoms may include:

  • Fusion of two or more spinal bones in the neck
  • Short neck and low hairline
  • Torticollis, a condition in which the head is tipped to one side and the chin is turned to the other, often called twisted or crooked neck
  • Cleft palate
  • Congenital scoliosis
  • Kidney, rib and heart defects
  • Hearing issues
  • Hypoplastic thumb (abnormality of the thumb)
  • Pain
  • Respiratory issues
  • Neurological deficits
  • Spina bifida
  • Syndactyly (webbed fingers)
  • Synkinesia, when movement in one hand involuntarily mimics the deliberate movement of the other hand
  • Sprengel’s deformity, a weakness of the shoulders caused by underdeveloped shoulder blades that sit high on the back

Klippel-Feil Syndrome Treatment

Treatment for Klippel-Feil syndrome will be unique based on a child’s diagnosis and current condition. The pediatric orthopedic specialists with COOL work with specialists from across the Norton Children’s network to provide care through a multidisciplinary approach that treats the whole child.

Surgical and nonsurgical orthopedic treatments for Klippel-Feil syndrome include:

  • Bracing
  • Implantation of growing rods
  • Physical therapy
  • Spinal fusion
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