Congenital Limb Disorders

The award-winning team at Luskin Orthopedic Institute for Children (LuskinOIC) creates personalized treatment plans for children with limb issues, aiming to help them overcome obstacles, build strength and coordination, and achieve new goals. We empower our children with congenital limb disorders to live life to the fullest by providing exceptional care and support from renowned doctors.

Signs and Symptoms

Congenital limb deficiency or deformity is when part of, or all of, the upper or lower limb fails to develop normally before a baby is born. Sometimes, congenital limb deficiencies and deformities are inherited, or passed down, from parent to child. In some cases they can develop if babies are exposed to certain toxins — like drugs or alcohol — while they’re still growing in the womb. But most of the time, these issues develop for no apparent reason.

Unlike other congenital health conditions, congenital limb deficiency and deformity don’t usually have noticeable symptoms like pain. Instead, the main symptom of a congenital limb deficiency is the limb’s appearance.

Children with a limb deficiency or deformity might struggle with:

• Mobility
• Motor skills development
• Daily self-care activities, like getting dressed or showering
• Social or emotional issues because of the physical appearance of the limb

Treatment and Recovery

Congenital limb deficiencies and deformities can sometimes be diagnosed during pregnancy, allowing expectant parents to plan for treatment after a child is born. Prenatal tests that can detect issues like this include:

• Blood tests
• Ultrasounds, which use sound waves to create an image of the baby
• Amniocentesis, which removes and tests the fluid around the fetus

Although some limb disorders are obvious before or at birth, there are times where a deficiency or deformity becomes visible or noticeable over a period of time after the child is born. If this happens, X-rays are taken to identify which bones have formed abnormally.

Treatment varies widely for congenital limb disorders, and the most common types of treatment include:

• Physical therapy
• Occupational therapy
• Leg lengthening
• Orthotics (braces or splints)
• Prosthetics (artificial limbs)
• Surgery

Common Types

Limb deficiencies can be longitudinal and transverse

• Longitudinal deficiency. A specific part of a limb — such as a bone in the arm or leg — is partially or completely missing. The most common type of upper-limb deficiency is called radial ray deficiency. It affects the radius, one of the bones that goes from the elbow to the wrist. The most common type of lower-limb deficiency is called hypoplasia of the fibula. This occurs when the fibula — or calf bone — is smaller than normal.
• Transverse deficiency. A limb is completely missing after a certain point. It will appear as if part of the limb has been amputated. This deficiency is most often caused by amniotic band syndrome, also called Streeter’s dysplasia. Other cases may be caused by underlying conditions, like chromosomal abnormalities, or a rare disease called Adams-Oliver syndrome.

Common types of congenital limb disorders include:

• Polydactyly. There are extra fingers or toes on the hands or feet. Learn More
• Symbrachydactyly. A rare congenital hand defect, the child’s fingers are abnormally short, missing, or webbed or conjoined. In this condition, the bones, muscles, ligaments, and nerves of the hand are usually affected. Learn More
• Syndactyly. A fairly common congenital defect in which the fingers or toes are webbed or joined. Learn More
• Bowed Legs. Legs curve outward at the knee, creating a space between the knees when the feet are together and a child faces forward while standing. The bowing may be in one leg or in both, and is especially noticeable when a child runs. Learn More
• Knock Knees. Also known as genu valgum, an angular deformity of the legs causes the knees to touch each other, while the ankles are spread apart. Learn More
• Leg Length Discrepancy. A child has one leg that is shorter than the other leg. This difference can range from very small and unnoticeable to several inches. Learn More
• Toe Deformities. Toe deformities occur when the toe bones are misaligned. If left untreated, some toe deformities can negatively impact your child’s quality of life and cause problems with other weight-bearing joints such as the knees and hips. Learn More

Our Experts in Congenital Limb Disorders

Timothy Schaub, MD

Anthony Scaduto, MD