Pediatric Skeletal Dysplasias

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.

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

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

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 can help relieve orthopaedic and medical problems related to skeletal dysplasia. The pediatric team at Children’s National Hospital 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

• The Little People of America, for skeletal dysplasias involving short stature. 
• Osteogenesis Imperfecta Foundation, for individuals with osteogenesis imperfecta or “brittle bone disease.”