What is a congenital limb difference?
Congenital limb differences are treatable birth defects that affect the patient’s upper or lower extremities. They frequently affect the hands and may appear as an isolated finding or along with other birth defects.
These differences may be as simple as an extra digit or as complex as a missing thumb and are frequently treatable problems. An evaluation by an experienced pediatric hand surgeon is the best choice for your child in order to determine the best course of treatment.
Examples of congenital limb differences include:
- Polydactyly (extra fingers or toes)
- Thumb duplications
- Thumb hypoplasia (small or absent thumb)
- Syndactyly (fused fingers)
- Cleft hand (divided hand)
- Radial longitudinal deficiency
- Ulnar longitudinal deficiency
- Brachydactyly (short digits)
- Symbrachydactyly (missing digits / limb)
- Macrodactyly (large digits)
- Joint contractures
What causes a congenital limb difference?
Congenital limb differences typically occur between 8 and 12 weeks of gestation, when the limb buds are forming in the embryo. There are a variety of known factors that can affect limb growth, but not all congenital limb differences come from known causes.
Some of the notable causes of a congenital limb difference are genetic syndromes, such as Apert syndrome, Holt-Oram syndrome, and Greig cephalopolysyndactyly, but not all children with a congenital limb difference have an underlying syndromic cause.
Genetic counseling is often helpful for patients with more complex differences, because they can help determine if there are other factors that need to be evaluated so that the patient may grow and develop safely. Your pediatric hand surgeon will discuss these considerations with you in detail at your consultation.
What are the symptoms?
Children with congenital limb differences will usually have visible differences, but not all differences are immediately noticeable. A good example of this are patients who have extra fingers or toes. To the casual observer, these may not be readily apparent, and sometimes are not diagnosed immediately after birth. Other patients may have immediately recognizable differences that affect limb function and appearance noticeably.
Your pediatric hand surgeon will evaluate the patient to determine if their congenital limb difference is associated with a functional issue or stigmatizing appearance and discuss the options for treatment.
How is a congenital limb difference diagnosed?
In many cases, the diagnosis of a congenital limb difference is made by prenatal ultrasound, but not all differences are immediately detectable with this test. If your child has a prenatal diagnosis made, you may be referred for a prenatal consultation with a pediatric hand surgeon to discuss the findings and possible treatment plans.
Often, the congenital limb difference is only detected at birth, when the pediatrician examines the baby for the first time. The pediatric team will often make the referral to the pediatric hand surgeon shortly thereafter so that your child may be further evaluated and treated.
How are congenital limb differences treated?
Treatments for congenital limb differences may vary widely, and are often dependent upon the overall functionality of the limb and the specific structures involved. Some patients only require simple treatments, like splinting, in order to maximize appearance and function, while other patients may require several surgeries over time to achieve a good result. It is important to seek an evaluation with an experienced pediatric hand surgeon in order for the patient to be fully evaluated and have an open discussion with the team regarding the best choices for your child.
What can you do to at home to help the child with the congenital limb difference and yourself?
If your baby is born with a congenital limb difference, your pediatrician will usually make the diagnosis shortly after the patient is born. They can then make the referral so your child can be seen by a specialist who has experience in treating patients with congenital limb differences, usually a pediatric hand surgeon.
Once you have seen the pediatric hand surgeon, they will make recommendations about how the child may be treated. Sometimes, this is as simple as wearing a splint, and other times, the condition may best be treated with surgery. It is important to ask questions about the options and how the child may be affected by each approach. Once a treatment plan is agreed upon, your caregiver will see the patient as he or she grows in order to follow their progress. It is important for you to pay special attention to how the patient uses his or her hands for activities of daily living, such as brushing their hair, eating, writing, or even playing. These details will help your pediatric hand surgeon to make informed, personalized choices with you regarding any treatment that may be helpful.
As your child grows, we can also assist you in supporting your child’s self-esteem, explaining how a congenital limb difference forms, how theirs was treated, and answer any questions your child may have as he or she grows up. We want to empower you to be able to handle these questions your child and others may have, in order to help improve understanding and acceptance.
Caring for a child who has a congenital limb difference can be a demanding task, requiring time and patience. It is normal to feel somewhat overwhelmed, especially in the beginning, and we are happy to help. It is also important for you to seek support from your friends and family. You may even join a support group to meet other parents and patients who may have gone through similar challenges. You are not alone.
Our pediatric hand surgery team is available to help support you and your family through this process so that you and your child may enjoy life to the fullest, with the best possible result for their future.