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Pediatric Thoracic Insufficiency Syndrome
Thoracic insufficiency syndrome is a congenital (present at birth) disorder that affects breathing and lung development.
What is Pediatric 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 Pediatric 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 Pediatric 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
Rrare 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