Dwarfism

Norton Children’s Orthopedics of Louisville, affiliated with the UofL School of Medicine, offers care for children and teens with dwarfism, also called short stature, caused by achondroplasia and other conditions.

What Is Dwarfism?

Dwarfism is a type of short stature caused by more than 300 different conditions, many of which are genetic (inherited) and present at birth (congenital). Children affected by dwarfism can have different physical traits in addition to short stature based on their specific condition. The most common condition that causes dwarfism is achondroplasia. Achondroplasia affects 1 in 20,000 babies.

Little People of America (LPA) provides more information about proper terms to describe height and body type.

What Is Achondroplasia?

Achondroplasia is a genetic bone disorder that causes cartilage to develop in an abnormal way. It is an autosomal dominant disease, meaning a child only needs to inherit one abnormal gene to have the condition. In many cases, the condition is a result of a new gene mutation in families where the parents are of average height without the abnormal gene.

Achondroplasia causes a child’s arms and legs to be short in proportion to body length. The child’s head often is large, and the trunk of the body is normal size. The average height of adult males with dwarfism caused by achondroplasia is about 4 feet, 4 inches. The average height of adult females is about 4 feet, 1 inch.

Dwarfism Symptoms

Depending on the cause of a child’s short stature, a child can experience:

Apnea (periods of slow or stopped breathing)
Bowed lower legs
Cleft palate
Clubfoot
Crowded and/or misaligned teeth
Delayed developmental milestones, such as walking
Flat, short and broad feet
Frequent middle ear infections
Hearing issues
Hip dysplasia
Large head with prominent forehead and flattened nasal bridge
Lordosis (inward curve of the spine), which can lead to kyphosis (a hunched back)
Poor muscle tone
Potential hip and knee dislocation
Scoliosis
Short arms, legs and fingers
Shortened upper arms and thighs
Small vertebra canals (spine or back bones) that can cause spinal cord compression, which can affect breathing
Trident hand (extra space between middle and ring fingers)
Vision issues

Dwarfism Treatment

Achondroplasia and other types of dwarfism can be detected before birth by a fetal ultrasound. It also can be diagnosed after birth by physical exam. DNA testing is available before birth to confirm ultrasound findings for parents who may be at increased risk for a child with the condition.

There are no treatments to prevent or cure achondroplasia, since the condition can be caused by unexpected gene mutations. Growth hormone treatments do not affect height in a substantial way. Treating the condition consists of treating bone abnormalities and issues that children can develop because of dwarfism. Depending on a child’s age, medical history and expression of dwarfism, treatments may include:

Dental corrections from orthodontist
Ear surgery to prevent ear infections
Leg-lengthening surgery
Scoliosis treatments
Surgery to fix bowing of the legs
Surgery for kyphosis
Treatment for clubfoot and cleft palate

Norton Children’s Specialized Programs and Services, Including:

Norton Children’s Cancer Institute, affiliated with the UofL School of Medicine, and the Addison Jo Blair Cancer Care Center, which is one of the oldest oncology programs continuously accredited by the American College of Surgeons’ Commission on Cancer
Norton Children’s Heart Institute, affiliated with the UofL School of Medicine, is a pioneer in pediatric cardiothoracic surgery. Norton Children’s heart transplant surgeons performed Kentucky’s first heart transplant in a newborn in 1986, making the hospital the second site in the United States to perform an infant transplant. Norton Children’s Hospital is home to the Jennifer Lawrence Cardiac Intensive Care Unit.
Pediatric neurology and neurosurgery, including a Level 4 epilepsy center
Orthopedic surgery and rehabilitation
Wendy Novak Diabetes Center