• Call us (213) 742-1000
  • donate

Congenital Limb Deficiency & Deformity

A congenital condition is one that is present from birth. A congenital limb deficiency (also called limb reduction) occurs when a limb doesn’t form correctly during pregnancy. This can cause a limb deformity—when the arm or leg is crooked, shortened, or bowed rather than straight.

Types

Congenital limb deficiencies can be classified as longitudinal or transverse.

  • A longitudinal deficiency is when a specific part of a limb (e.g., a bone in the arm or leg) is partially or completely missing.
  • A transverse deficiency (also called amelia) is when the limb is completely missing after a certain point. The leg or arm will have a short stump, making it look like part of it has been amputated.

 

There are several different types of deformities, with the most common including:

  • Polydactyly: A child has more than 5 toes per foot or 5 fingers per hand.
  • Syndactyly: The fingers or toes appear webbed or are fused together.
  • Brachydactyly: A child has abnormally short fingers that may look like stubs.
  • Symbrachydactyly: The fingers are short or missing.

Symptoms

The main symptom of a congenital limb deficiency is the visible deformity—how it looks.

A child with a limb deficiency or deformity may also experience:

  • Limitation in movements, sports, or activities
  • Difficulty in developing motor skills
  • Needing assistance with daily and self-care activities, like getting dressed or showering
  • Having social or emotional issues because of her physical appearance

Causes

Most limb deficiencies and deformities have no known cause. Certain ones may be inherited (passed down from mother to child), and others may be due to the fetus being exposed to toxins, like drugs or alcohol.

Diagnosis

Many deficiencies and deformities are visible, either right at birth or by the baby’s first birthday. However, a physician may need to perform imaging tests (e.g., X-rays) to clearly see which bones are affected.

Deficiencies and deformities can also be diagnosed during pregnancy. Tests like ultrasounds, blood tests, and amniocentesis (removing and testing fluid around the fetus) have become more common. Tests like these allow physicians to diagnose problems before a baby is born.

 

Treatment

The goal of treatment is the same for all limb deficiencies or deformities: maximize function so a child can live as normally as possible.

Sometimes, that means no treatment at all—a missing small toe or a short pinky may not affect a child’s functioning, so won’t require treatment.

When treatment is needed, it will depend on the type and severity of the deficiency or deformity. The most common types of treatment include:

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

Prevention

Currently, there is no known way to prevent a limb deficiency or deformity. Expectant mothers may be able to reduce the risk of their babies developing a deficiency or deformity by maintaining a healthy pregnancy and avoiding toxins like tobacco or alcohol.

The OIC Congenital Limb Deficiency Team

At OIC we draw from a wide range of experts and expertise in order to help your child with his or her congenital orthopaedic disorder. If you come to OIC for help, your team could include:

The Pediatric Orthopaedist specializes in the musculoskeletal system of children. They provide surgical interventions when necessary such as tendon lengthening.

The Pediatrician reviews medical issues and coordinates the general healthcare of the patient, in addition to working with the orthopaedic surgeon for pre-operative assessments if surgery is indicated and overseeing medical issues for hospitalized patients.

The Nurse Coordinator assists in making sure all medical orders are carried out, and provides case management and nursing assessment for the patient.   

The Orthotist works with the team to prevent unequal or unbalanced muscle groups which can lead to deformities as the child grows.

The Cast Technician helps ensure that the casts and casting regimen your child requires is managed carefully and effectively to ensure that patients heal properly.