Types of Skeletal Dysplasia We Treat

Skeletal dysplasia, also known as dwarfism, is a group of more than 400 disorders affecting the way bones and cartilage grow. Cedars-Sinai is home to pioneering efforts to improve skeletal dysplasia care. Our pediatric neurosurgeons deliver sophisticated treatments, some of which are not widely available. Our expertise spans rare and complex forms of the disease.

We treat symptoms affecting the skull and spine in children with:

  • Achondroplasia, a common form of skeletal dysplasia that results in short limbs
  • Campomelic dysplasia, a potentially life-threatening disorder affecting the bones and reproductive system
  • Chondrodysplasia punctata, spots at the ends of bones, which appear on X-rays, and other problems such as short stature
  • Cornelia de Lange syndrome, a genetic disorder that causes growth problems in addition to other medical and developmental challenges
  • Diastrophic dysplasia, abnormally short arms and legs along with joint problems that make it difficult to move
  • Hallermann-Streiff syndrome, a rare condition causing short height and abnormalities affecting the skull and face
  • Hypochondroplasia, similar to achondroplasia but with symptoms that are less severe
  • Hypophosphatasia, a genetic disorder affecting bone and tooth development
  • Kniest dysplasia, a short trunk and limbs along with vision and hearing problems
  • Larsen syndrome, a group of conditions affecting bone development
  • Metaphyseal dysplasia, problems with the outer portion of long bones that increase the risk of fractures
  • Morquio syndrome (mucopolysaccharidosis), a condition that prevents the body from breaking down certain sugar molecules 
  • Multiple epiphyseal dysplasia, disorders affecting cartilage and bones in the arms and legs but might not cause short stature 
  • Osteogenesis imperfecta, bones that break easily or don't form correctly
  • Pituitary dwarfism, a lack of growth hormone from the pituitary gland that causes short height
  • Primordial dwarfism, growth problems that begin in the earliest stages of development
  • Pseudoachondroplasia, normal head size and facial features with short limbs
  • Russell-Silver syndrome, abnormal bone growth before and after birth, including a curved pinky finger and a broad forehead
  • Shwachman-Diamond syndrome, an inherited disorder affecting the skeletal system and bone marrow
  • Spondyloepiphyseal dysplasia, short trunk and an abnormal curve in the upper spine 
  • Thanatophoric dysplasia, extremely short arms and legs
  • Turner syndrome, a genetic disorder affecting girls that causes short height in addition to other medical problems

We also treat complications of skeletal dysplasia, including:

  • Foramen magnum stenosis, narrowing at the base of the skull that leads to life-threatening complications
  • Hydrocephalus, extra fluid in or around the brain
  • Pinched nerves, abnormal bone or tissue formations that affect the nerves
  • Scoliosis, a sideways curve of the spine
  • Spondylolisthesis and other conditions that cause the bones of the spine to slip out of place
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