What are the symptoms of diastrophic dysplasia?

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What are the symptoms of diastrophic dysplasia?

Symptoms of diastrophic dwarfism vary widely. Most people with the disorder have short stature and failure to grow. But other symptoms may occur throughout the body, such as:

Head and mouth

  • Broad forehead with a high hairline.
  • Thick, swollen or deformed ears.
  • Abnormally small jaw (micrognathia).
  • Dental abnormalities, such as small teeth or dental crowding.
  • Cleft palate, an abnormal opening in the roof of the mouth.
  • Breathing problems.

Extremities

  • Brachydactyly, abnormally short fingers.
  • “Hitchhiker’s thumbs,” which point outward.
  • Clubfoot, when one foot or both feet turn inward.
  • Short, bowed arms and legs.

Joints

  • Contractures, joint deformities that can stop joints from fully extending, limiting movement.
  • Fused joints that don’t bend, which can restrict movement.
  • Loose or stiff joints, or joint dislocations.
  • Osteoarthritis with joint pain.

Spine

  • Kyphosis, excessive curvature of the spine, creating the appearance of a hunch or rounded back.
  • Scoliosis, side-to-side curvature of your spine.

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