Congenital Limb Disorders

Understanding Congenital Limb Deficiency or Deformity

Finding out your child has a congenital limb deficiency or deformity can leave you feeling overwhelmed and full of uncertainty. You might find yourself wondering, “Now what? What does this mean for my child? Is there anything doctors can do for a problem like this?”

A good first place to start is by understanding what congenital limb deficiency and deformity is. Here’s what you should know.


What is Congenital Limb Deficiency or Deformity?

The word “congenital” means “present from the time a child is born.” So a congenital health condition is one that a child is born with. These health conditions can develop during pregnancy for many reasons.

A diagnosis of congenital limb deficiency or deformity means that a baby is born with part or all of a limb missing, or formed incorrectly.


How Common is Congenital Limb Deficiency

Each year in the United States:

  • 1,500 babies are born with an arm deficiency or deformity
  • 750 babies are born with a leg deficiency or deformity

The condition might be hereditary (passed down through a parent’s DNA). Other times, congenital conditions like this might develop as a result of a random genetic mutation. And in some cases, the reason for the congenital condition simply isn’t clear.

But no matter what the cause might be, a congenital limb deficiency or deformity—sometimes also called limb reduction—occurs when a limb doesn’t form correctly during pregnancy. This can lead to an arm or leg that is crooked, shortened, or bowed rather than straight.


What Are the Different Types of Congenital Limb Deficiency and Deformity?

Congenital Limb Deficiency

Congenital limb deficiency means that part or all of a limb is missing. There are two main types of congenital limb deficiencies: longitudinal and transverse.

  • A longitudinal deficiency is when 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 (the bone that goes from the elbow to the wrist).
    • The most common type of lower-limb deficiency is called hypoplasia of the fibula. The fibula (calf bone) is smaller than normal.  
  • A transverse deficiency (also called amelia) is when the 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). While in the womb, the fetus becomes entangled in string-like bands. This restricts blood flow, and disrupts development.
    • Other cases may be caused by underlying conditions, like chromosomal abnormalities, or a rare disease called Adams-Oliver syndrome.

Congenital Limb Deformity

With a congenital limb deformity, the limb might be intact but incorrectly formed. As with limb deficiencies, there are also several different types of congenital limb deformities. The most common types include:

  • 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.


What Are the Symptoms of Congenital Limb Deficiency and Deformity?

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.

But this doesn’t mean that life with a congenital limb deficiency or deformity doesn’t have its challenges. 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

At OIC, we believe that no child should suffer unnecessarily from the struggles that a congenital limb deficiency or deformity might cause. This is why we offer the highest quality care and support for children and their families.