Rib Deformities in Children

In normal development, a baby is born with 12 pairs of ribs. The number is the same for males and females. The top seven ribs (called the true ribs) connect with cartilage to the breastbone (sternum). The front ends of the bottom five (the false ribs) either connect with cartilage to each other (ribs 8 through 10), or do not connect at all (ribs 11 and 12). The ribs protect and make space for the heart, lungs and other organs of the chest and abdomen.

Some babies are born with rib deformities. These range from minor variations on normal anatomy to life-threatening conditions that constrict the lungs. Rib deformities can take many forms, including:

  • Extra (supernumerary) ribs
  • Missing ribs (agenesis of ribs)
  • Abnormally short ribs
  • Abnormally shaped ribs
  • Ribs that are fused together

When rib deformities cause the chest to be too small for healthy lung development, the condition is known as thoracic insufficiency syndrome.

Causes of rib deformities

Some rib deformities occur as a result of genetic mutations. These may be inherited from one or both parents or may occur spontaneously as de novo gene mutations.

In other cases, there is no known cause for the rib abnormalities.

Rib deformities may appear in isolation, with no other anatomical anomalies, or in association with other problems, sometimes as part of an identified condition or syndrome. It is not unusual for people with trisomy 21 (Down syndrome), for example, to have an extra or a missing pair of ribs, and the rib abnormalities in these cases rarely cause health problems.

Conditions in which significant rib deformities appear with other anatomical anomalies include:

  • Jeune syndrome, also called asphyxiating thoracic dystrophy, which is characterized by an abnormally small chest and rib cage and severe breathing problems.
  • Spondylocostal dysplasia (or dysostosis), a rare condition characterized by abnormal development of the spine and ribs. People with this condition can have fused or missing ribs as well as an abnormally curved spine (scoliosis) caused by misshapen or fused vertebrae.
  • Spondylothoracic dysplasia (or dysostosis), a condition characterized by ribs that are fused together at the parts nearest the spine, along with misshapen or fused vertebrae. Babies born with this condition have small chests and severe breathing problems.

Jeune syndrome, spondylocostal dysplasia, and spondylothoracic dysplasia are all autosomal recessive diseases, which means that both parents must carry the gene mutation for a child to be born with the disorder.

Spondylocostal dysplasia and spondylothoracic dysplasia have, in the past, been considered variations on a single condition and called Jarcho-Levin syndrome. They are now seen as separate conditions, and the name Jarcho-Levin syndrome is considered obsolete.

Signs and symptoms of rib deformities

Minor rib malformations may not be noticed until detected on an X-ray, and may have no impact on a child’s health. An extra rib or a missing rib, if it does not affect the size or shape of the chest, is not likely to be noticed, and is generally not a health concern.

Signs of more significant rib deformities may include:

  • Narrow or undersized chest
  • Misshapen chest (from multiple missing ribs)
  • Difficulty breathing
  • Unusual expansion of the lower abdomen as the child breathes in

When rib deformities occur as part of another condition or syndrome, other symptoms may include:

  • Short stature
  • Unusually short arms and legs
  • Short torso
  • Rigid neck
  • Spine curvature (scoliosis)
  • Extra fingers or toes

Testing and diagnosis for rib deformities

Rib deformities may be detected before birth with ultrasound imaging. If not, symptoms such as small chest and breathing difficulties after birth may suggest rib deformities, and the diagnosis will be made with X-rays.

Genetic testing may be used to confirm the diagnosis of an inherited condition involving rib deformities.

Treatment of rib deformities

Treatment for rib deformities is determined by the nature and severity of the abnormalities.

If the deformities cause no health problems and no discomfort or posture issues, no treatment is needed.

If the deformities cause breathing problems or restrict the development of the lungs (thoracic insufficiency syndrome), your child may need breathing support, such as intubation or tracheotomy. Your child’s medical team may recommend vertical expandable prosthetic titanium ribs (VEPTR) surgery, an innovative treatment that allows your child’s ribs, spine and lungs to expand and grow. The VEPTR is surgically adjusted as your child ages until they reach a full skeletal maturity.

Follow-up care for rib deformities

If your child has VEPTR surgery, follow-up visits will be required to adjust the titanium ribs as your child grows. When your child has finished growing, an additional procedure — spinal fusion — may be necessary.

If your child is diagnosed with a condition that is associated with other health risks, follow-up visits may also be needed to monitor those risks. Children with Jeune syndrome, for example, should be monitored in follow-up visits for possible kidney, liver or vision problems.

Outlook for rib deformities

Your child’s long-term outlook will depend greatly on the severity of the rib deformities and whether they are part of a condition associated with other medical issues or risks.

Long-term outcomes for children undergoing VEPTR surgery are generally good. The late Robert M. Campbell, Jr., MD, who was an orthopaedic surgeon at CHOP, created the first expandable rib in 1988. CHOP’s extensive research surrounding VEPTR, stemming from Dr. Campbell’s leadership, showed a 70 percent survival rate as a result of VEPTR surgery in the Jeune’s syndrome population, as opposed to 20 percent without intervention.

Why Choose CHOP?

The Wyss/Campbell Center for Thoracic Insufficiency Syndrome at Children’s Hospital of Philadelphia (CHOP) is the first program in the nation devoted solely to treating children with complex spine and chest wall conditions that affect normal breathing and lung growth, including rib deformities.

We evaluate hundreds of children from around the world and offer complete care, from evaluation through long-term follow-up, using the latest technologies and surgeries. VEPTR surgery was invented by a CHOP orthopaedic surgeon, and has revolutionized the care of children with spine disorders and restricted lung growth. Our center is one of only a few institutions in the world to offer this revolutionary treatment. We perform more than 200 VEPTR and other growth-sparing procedures each year.

Our team collaborates closely with CHOP’s Spine Program, one of the largest multidisciplinary programs of its kind in the world, as well as pulmonologists, cardiologists, cardiothoracic surgeons, neurosurgeons, hematology specialists, neuroradiologists, interventional pulmonologists and genetic counselors throughout the hospital.

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Why Choose CHOP for TIS Care

Children’s Hospital of Philadelphia offers world-class care for children with thoracic insufficiency syndrome.