Skeletal dysplasias and abnormalities

What are skeletal dysplasias and abnormalities?

Pediatric skeletal dysplasias and abnormalities affect a fetus’ bones and joints. In some cases, the bones may be abnormally shaped, or too long or too short compared to the rest of the body.

What are the different types of skeletal dysplasias and abnormalities?

There are over 400 different types of pediatric skeletal dysplasias and abnormalities. The condition usually affects the bones in the head, spine, arms and legs.

The most common types of problems include:

• Abnormally shaped ribs

• Abnormally thick or thin bones

• Achondroplasias (dwarfism)

• Bone fracture

• Bowed legs

• Extra digits (fingers and toes)

• Missing arm, leg, fingers or toes

• One leg or arm shorter than the other

• Osteogenesis imperfecta OI (brittle bone disease)

• Shortened femur (thigh) bone

• Shortened humerus (upper arm) bone

What are the signs and symptoms of skeletal dysplasias and abnormalities?

Symptoms of pediatric skeletal dysplasias may include:

• Bowed legs

• Breathing problems, such as apnea

• Chronic ear infection

• Curved spine

• Dental problems, such as cleft palate or crowded teeth

• Developmental delay

• Extra fingers and/or toes

• Fluid on the brain

• Joint pain and stiffness

• Large head or large forehead

• Mental delay

• Obesity

• Scoliosis

• Short stature

• Short upper arms and/or thighs

• Slow growth

• Spinal stenosis

What are the causes of skeletal dysplasias and abnormalities?

Pediatric skeletal dysplasia’s and abnormalities are most often caused by a genetic disorder. They may also occur due to exposure to toxic substances during pregnancy.