Skeletal Dysplasias

What Is Skeletal Dysplasia?

Skeletal dysplasia describes a category of rare genetic disorders that affect bones and joints and hinder children’s growth and development. The disorder causes abnormally shaped bones, especially in the head, spine, and long bones of the arms and legs. Children with skeletal dysplasia often have limbs that are too short compared with the rest of the body.

If untreated, skeletal dysplasia can lead to:

  • Difficulty breathing, including apnea (breathing stops for 20 seconds or more)
  • Spinal problems including curving, bowing, or narrowing (stenosis) of the spine
  • Fluid buildup around the brain
  • Obesity
  • Chronic ear infections

What Causes Skeletal Dysplasia?

The condition is caused by defective genes that either are inherited from a parent or mutate randomly during fetal development. The specific defective gene responsible for a certain skeletal dysplasia is often hard to detect.

Types of Skeletal Dysplasia

Of more than 200 types of skeletal dysplasia, these are some commonly known types:

  • Achondroplasia (most common) and other types of dwarfism
  • Osteogenesis imperfecta (brittle-bone disease)
  • Thanatophoric dysplasia, causing extremely short limbs
  • Hypochondroplasia, causing short arms and legs, and short, broad hands and feet
  • Campomelic dysplasia, causing bowed long bones in legs and arms, often fatal for newborns
  • Achondrogenesis, causing skeletal abnormalities including short limbs and a small body

 

Symptoms of Skeletal Dysplasia

Often, skeletal dysplasia is noticeable at birth, but some symptoms may not develop until later in childhood:

  • Short stature or slow growth
  • Disproportionately large head, especially the forehead
  • Disproportionately short upper arms and thighs
  • Short or too many fingers or toes
  • Joint stiffness, pain, or arthritis
  • Curved bones, especially bowlegs and scoliosis (spine curvature)
  • Cleft palate or crowded teeth
  • Developmental delays such as late walking
  • Mental retardation

 

How Is Skeletal Dysplasia Diagnosed?

Physicians can often detect skeletal dysplasia at birth because of its distinctive symptoms. Other tests that help confirm a diagnosis include:

  • X-rays to look for abnormal bone structure
  • Diagnostic imaging, including MRI and CT scans, to precisely examine bones
  • Prenatal diagnostic imaging, especially ultrasound, to detect problems such as shortened bones
  • Prenatal genetic testing, including amniocentesis, to identify gene mutations in families with a history of skeletal dysplasia
  • Post-natal genetic testing

 

Treatments for Skeletal Dysplasia

Treatments can help relieve orthopaedic and medical problems related to skeletal dysplasia. The pediatric team at Children’s National may recommend one or more of these options depending on your child’s condition:

  • Growth hormone treatment for children with dwarfism related to growth hormone deficiency
  • Physical therapy to improve muscle strength and range of motion in joints
  • Back braces to improve spine curvature or bowing
  • Orthodontic treatment to improve teeth crowding
  • Guidance on proper nutrition and exercise to help prevent obesity

 Surgical options include:

  • Inserting draining tubes in the middle ear to prevent hearing loss caused by chronic ear infection
  • Improving breathing by tracheotomy or removing tonsils or adenoids
  • Widening the spinal canal to relieve pressure on the spinal cord
  • Correcting physical deformities such as cleft palate, clubfoot, or bowlegs
  • Draining excess fluid from the brain to relieve pressure

Additional Resources

Children's Team

Children's Team

Providers

oetgen

Matthew Oetgen

Division Chief, Orthopaedic Surgery and Sports Medicine
Departments

Departments

Skeletal Dysplasia Clinic

For more than 25 years, the Skeletal Dysplasia Clinic has provided multidisciplinary care for infants, children, and young adults with various forms of skeletal disorders.

Orthopaedic Surgery and Sports Medicine

Our orthopaedic experts provide advanced care for children and teens with orthopaedic conditions and sports injuries.

Genetics and Metabolism

With more than 4,000 visits annually and 12 physicians, Children’s National is now the largest clinical genetics program in the United States.

Fetal Medicine Institute

Our fetal medicine team provides specialized, expert care for babies during pregnancy, delivery, and the postnatal period.

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Karen O'Connell's Story

Karen O'Connell

Karen O'Connell, MD, and her team have been evaluating events in which families are present during the critical moments of their child’s invasive procedures and trauma and medical resuscitation.

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