Skeletal Dysplasias Specialist

Paley Orthopedic & Spine Institute

Orthopedics located in West Palm Beach, FL

If your child’s legs or arms look too short or too long compared to the rest of their body, or their head is disproportionately large, they may have a rare condition called skeletal dysplasia. Left untreated, skeletal dysplasia leads to additional problems. If you suspect an abnormal bone growth in your child, schedule a consultation online or call Paley Orthopedic & Spine Institute at St. Mary’s Medical Center in West Palm Beach, Florida.

Skeletal Dysplasias Q & A

What is skeletal dysplasia?

Skeletal dysplasia is a term to describe more than 200 rare, genetic pediatric disorders affecting bone and joint development. Children with skeletal dysplasia have abnormally shaped bones, particularly in their spine, head, arms, and legs, and tend to have limbs that are too short in comparison to the rest of their body. Untreated, skeletal dysplasia may lead to other health problems, including:

Breathing problems, including sleep apnea

  • Obesity
  • Fluid in the brain
  • Chronic ear infections
  • Spinal problems including spinal stenosis, curving, or bowing of the spine

Skeletal dysplasia is caused by defective genes that mutate during fetal development or are inherited from a parent, but pinpointing the specific defective gene responsible for skeletal dysplasia is difficult.

What are the most common types of skeletal dysplasia?

While a diagnosis of skeletal dysplasia is rare overall, some types are more common than others, including:

  • Dwarfism
  • Osteogenesis imperfecta (brittle-bone disease)
  • Achondrogenesis (short limbs and small body)
  • Hypochondroplasia (short limbs, short and broad hands and feet)
  • Thanatophoric dysplasia (extremely short limbs)
  • Campomelic dysplasia (bowed, long leg and arm bones)

If your child has been diagnosed with skeletal dysplasia or you suspect they have abnormal bone growth, call Paley Orthopedic & Spine Institute for a consultation.

What are the symptoms of skeletal dysplasia?

For most children, skeletal dysplasia is visible at birth but some symptoms aren’t noticeable until later in childhood. Doctors use X-rays, MRI, and CT scans to diagnose skeletal dysplasia. Children with skeletal dysplasia often have:

  • Slow growth
  • Developmental delays
  • Too many fingers or toes, or they’re too short
  • Joint stiffness or pain
  • Disproportionately large forehead or head
  • Disproportionately short arms and legs
  • Spine curvature
  • Bowed legs
  • Crowded teeth
  • Cleft palate
  • Mental retardation

How is skeletal dysplasia treated?

Treatment for skeletal dysplasia depends on the type of skeletal dysplasia you have and what related medical problems occur. Paley Orthopedic & Spine Institute doctors may recommend one or more of the following treatment options: 

  • Back braces
  • Growth hormone treatment
  • Physical therapy
  • Nutritional therapy
  • Exercise programs
  • Orthodontics
  • Ear tubes to prevent chronic ear infection
  • Tonsil and adenoid removal
  • Spinal canal widening
  • Deformity correction for clubfoot, cleft palate, or bowlegs
  • Fluid drainage from the brain

To learn about your treatment options, call Paley Orthopedic & Spine Institute’s experienced medical team.

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