Thoracic insufficiency syndrome

What is thoracic insufficiency syndrome?

In general, children with thoracic insufficiency syndrome will have limited lung growth due to rib deformities and curvature of the spine. In a baby with thoracic insufficiency syndrome, there are chest wall deformities that affect breathing and lung development. As these children grow, they will be dependent on nasal oxygen or ventilator support to breathe.

What are the signs and symptoms of thoracic insufficiency syndrome?

Signs and symptoms of thoracic insufficiency syndrome vary according to the cause of the condition, and may include:

• Fusion of two or more ribs

• Missing ribs

• Short, narrow torso and rib cage

• Spinal deformities

What are the causes of thoracic insufficiency syndrome?

In many cases, this condition is caused by a baby being born with progressive scoliosis (curvature of the spine) and severe rib fusion.

Other conditions that can cause thoracic insufficiency syndrome include:

• Arthrogryposis - When two or more joints are permanently either bent or straight

• Cerebrocostomandibular syndrome - Rare disorder that causes a small jaw, malformations of the roof of the mouth, problems with the tongue and rib development problems

• Excessive kyphosis - Forward rounding of the back caused by spine curvature

• Goldenhar syndrome - Rare disorder that causes developmental problems with the ear, nose, roof of mouth, lip and jaw

• Jarcho-Levin syndrome - Condition that causes problems with the bones of the spinal column and ribs, as well as breathing problems

• Jeune syndrome - Disorder that affects development of the rib cage, pelvis, arms and legs

• Missing ribs at birth

• Pierre-Robin syndrome - Condition that causes facial abnormalities

• Spinal muscular atrophy (SMA) - Disorder that affects the motor nerve cells in the spinal cord

• VATER syndrome - Disorder that causes problems with the vertebrae, anus, trachea, esophagus and kidneys