Orthopedic Surgery

Genetic Conditions that Affect the Cervical Spine: An Overview

Genes play an important role in a child's overall health. Many cervical spine conditions — both common and rare — have a genetic component. Genetic conditions can be caused by inheritance (passed from parent to child), disrupted or abnormal development in utero, or unknown factors.

At the Children's Hospital of Philadelphia, the orthopedic spine team offers comprehensive evaluation and treatment for children with all genetic conditions that affect the cervical spine.

CHOP's Division of Orthopedic Surgery is one of the top ranked orthopedic facilities for children in the country and one of the busiest. Last year, our orthopedic team treated more than 60,000 patients and performed more than 3,000 orthopedic surgeries.

Genetic conditions that affect the cervical spine vary widely. Each condition has its own set of symptoms, treatment options and long-term outcomes. Some are visible at birth; others are not as obvious and only become known as problems develop.

Each genetic disease or syndrome can vary in severity from child to child; and affect one child differently throughout the course of his growth and development. Many of the genetic conditions don't just affect the cervical spine, but also create multiple medical issues that can affect a child's outward appearance, internal organs and overall function.

Because of the complex nature of these genetic conditions, an experienced multidisciplinary team is needed to assess each child's individual condition and develop a customized care plan.   

Common conditions we treat



Other syndromes known to have cervical spine associated problems

  • Aarskog syndrome
  • Apert syndrome
  • Atelosteogenesis, type 1
  • Campomelic dysplasia
  • Cervico-Ocuolo-Acoustic syndrome (Wildervanck syndrome)
  • Chondrodysplasia punctata
  • Cleidocranial dysostosis
  • Dyggve-Melchior-Clausen syndrome
  • Ehlers-Danlos syndrome IV
  • Fetal alcohol syndrome
  • Frontometaphyseal dysplasia
  • Hajdu-Cheney syndrome
  • Hurler syndrome
  • Marfan syndrome
  • Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)
  • Marshall-Smith syndrome
  • Melorheostosis
  • Metaphyseal chondrodysplasia
  • Metatropic dysplasia
  • Mucopolysaccharidoses (MPS)
  • Multiple epiphyseal dysplasia
  • Osteopathia striata
  • Osteopoikilosis
  • Pyknodysostosis
  • Spina bifida
  • Spondylocarpotarsal synostosis syndrome
  • Spondyloepimetaphyseal dysplasia
  • Spondylometaphyseal dysplasia-Kozlowski (Kozlowski spondylometaphyseal dysplasia)
  • Weaver syndrome

Symptoms of genetic conditions that affect the cervical spine

Specific symptoms depend on the particular condition, but symptoms may include:

Diagnosing genetic conditions that affect the cervical spine

Some conditions may be diagnosed prenatally with ultrasound while the unborn child is still in the womb. Many other conditions are only determined after birth — some not until adolescence.

At The Children’s Hospital of Philadelphia, diagnostic evaluation for genetic conditions that can affect the cervical spine generally begin with a thorough medical history and physical examination of your child by a physician.

Our clinical experts use a variety of diagnostic tests to diagnose genetic conditions that can affect the cervical spine, including:

Individualized, collaborative treatment for genetic conditions

Treatment for genetic cervical spine conditions is multi-pronged because each condition affects several body systems. In some cases, careful monitoring may be all that is required. In other cases, non-surgical or surgical treatments may be needed to address specific aspects of the condition.

At The Children’s Hospital of Philadelphia, we practice collaborative, family-centered care. A team of expert clinicians — including world-renowned orthopedic surgeons and physicians, pediatric nurses, physical and occupational therapists, psychologists and other specialists — will partner with you in the care of your child.

Many children with genetic conditions are also diagnosed with a variety of orthopedic conditions including: scoliosis, hip dysplasia, hand and foot anomalies, and facial abnormalities.

In some cases, these conditions are present at birth and can — or must — be treated when the child is young. This is the case for many hand and foot anomalies, facial deformities and damage to organs such as the heart, lungs, liver or kidneys.

Orthopedic experts work closely with specialists from divisions and programs across the Hospital, including:

Together, they will work with your family to create an individualized care plan for your child. Depending on your child's condition, multiple surgeries may be required.

Some complications of genetic conditions only become evident — or problematic — as your child grows. This is often true for spinal deformities, such as scoliosis, dislocated hips and joint disorders.

Depending on your child’s needs, orthopedic specialists from our Spine Program, Hip Disorders Program or our Neuromuscular Program will treat your child.

Every child’s condition is different, so treatment is determined on a case-by-case basis. For example, if your child has scoliosis, our team of specialists will consider the severity of the curve, where it occurs in the spine, and your child's age and stage of growth, before determining the best course of action.

Treatment may include non-surgical options such as bracing and physical therapy, or surgical options such as spinal fusion, implanting growing rods or vertical expandable prosthetic titanium ribs (VEPTR) to stabilize your child’s spine as she continues to grow.

Though spine surgery for genetic conditions is highly effective, we understand that any surgery can be a stressful experience for children and families. At CHOP, we offer a wealth of resources about how to prepare your child for surgery and what to expect during surgery.

Additionally, we employ numerous best practices before, during and after surgery to decrease the risk of infection and increase positive outcomes. For more details about safety protocols at The Children's Hospital of Philadelphia, see safety in surgery.

Follow-up for genetic conditions that can affect the cervical spine

Because of the complexity of genetic cervical spine conditions, regular follow-up and monitoring will be required.

If your child had spine surgery, he should be seen by an orthopedic physician 1-2 weeks post-op, then again at 3-months and 6-months post-op. After your child has healed, annual visits with an orthopedic physician are encouraged.

Our team meets regularly to review your child's progress and revise treatment goals to achieve the best possible outcome. Recognizing that your primary care team also is an important part of the process, we provide regular updates to them on the progress of your child.

During follow-up visits, X-rays and other diagnostic testing may be completed to closely monitor your child’s condition and ensure there are no side effects from surgery.

Follow-up care and ongoing support and services are available at our Main Campus and throughout our CHOP Care Network. Our team is committed to partnering with parents and referring physicians to provide the most current, comprehensive and specialized care possible for your child.

Long-term outcomes

Outcomes for children with genetic conditions that affect the cervical spine are varied. The nature of their genetic condition and any other health issues, how quickly the child is diagnosed, and possible treatment options, all factor into a child’s long-term prognosis.

In many of these conditions, early diagnosis and careful monitoring help clinicians determine when is the best time to medically intervene to give your child the best quality and quantity of life.

With ongoing research and advances in treatment options, outcomes for children with genetic cervical spine conditions will continue to improve.


For more information on genetic conditions that can affect the cervical spine, visit:

Contact us

To make an appointment with the Division of Orthopedic Surgery at The Children's Hospital of Philadelphia, call 215-590-1527 or contact us online.

Reviewed by: John P. Dormans, MD, FACS
Date: May 2013

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