Ectrodactyly

What is ectrodactyly?

Ectrodactyly is a type of congenital hand difference, meaning it’s present at birth. With this type of hand deformity, the middle part of your baby’s hand develops abnormally. They’re missing one or more of the central fingers of their hand, leaving a V-shaped space or indentation (cleft). Your baby’s hand may have a claw-like appearance and their remaining fingers may be webbed.

Other names for ectrodactyly include cleft hand or split hand/foot malformation (SHFM). The condition can affect your baby’s toes, as well.

Ectrodactyly may happen on its own, or it may be a part of another condition or syndrome that includes other parts of your baby’s body. It can affect one or both hands. The condition affects people with varying levels of severity. There are many different symptoms and genetic causes.

Ectrodactyly is rare. The condition occurs in about 1 out of every 90,000 live births worldwide.

Types of ectrodactyly

There are two main types of ectrodactyly:

• Typical cleft hand: Your baby’s hand forms a “V” shape and is missing or partially missing the middle finger. Typical cleft hand has a genetic origin, meaning there’s often a biological family history with this type of ectrodactyly. It usually affects both hands and may affect your baby’s feet, as well.
• Atypical cleft hand: Your baby’s hand forms more of a “U” shape and is missing the index, middle and ring fingers. Only one hand is usually affected. Atypical cleft hand isn’t usually inherited and is instead the result of a spontaneous (random) genetic variant.

What are the symptoms of ectrodactyly?

Ectrodactyly symptoms vary widely from baby to baby. Most babies with the condition are missing fingers or toes, but others have a condition called syndactyly, where multiple fingers have fused. This is sometimes called “lobster claw” — the middle finger is absent and is replaced by a cone-shaped cleft that tapers in toward your baby’s wrist and divides your baby’s hand into two parts that look like a lobster claw. The remaining fingers on each side of the cleft are frequently webbed together.

Other babies with ectrodactyly may have only a pinky finger but no cleft. Others are completely missing a hand.

What causes ectrodactyly?

A genetic variation in one of several genes causes ectrodactyly. Genes that are known to cause the condition include:

• DLX6.
• EPS15L1.
• TP63.
• WNT10B.
• DLX5.

Who is most likely to get ectrodactyly?

Ectrodactyly affects babies assigned male at birth (AMAB) and babies assigned female at birth (AFAB) equally.

Conditions like ectrodactyly are sometimes linked to certain environmental factors during your pregnancy, including:

• Drinking alcohol.
• Smoking, vaping or using tobacco and smokeless tobacco products.
• Nonmedical drug use.

Talk to your healthcare provider about what you should avoid eating, drinking or doing while you’re pregnant.

How is ectrodactyly diagnosed?

Your healthcare provider will be able to diagnose ectrodactyly when your baby is born. They’ll identify any missing digits or clefting of your baby’s hands and feet, and they’ll diagnose and recommend treatment for your baby’s condition.

What tests will be done to diagnose this condition?

Ectrodactyly doesn’t typically need any tests to diagnose it. You and your provider will be able to see if your baby has missing digits, webbing or a cleft in their hands or feet. Your provider may be able to diagnose the condition before your baby is born with a fetal ultrasound test.

After your baby is born, they may need an X-ray of their hands or feet before their provider can treat the condition properly.

If you have a biological family history of a genetic disorder, genetic counseling can help you decide if genetic testing is right for you. This can screen for any issues, including the genetic variations that cause ectrodactyly.

Being the carrier of a genetic variation doesn’t mean you’ll pass genetic disorders on to your children. Genetic counselors can help explain your risk and what other steps you can take to protect your health or lower your risks of passing certain genetic issues on to your children.

How is ectrodactyly treated?

Ectrodactyly treatment will depend on the severity of your baby’s condition. Your child may simply need physical therapy and/or occupational therapy.

An orthopedic surgeon, a plastic surgeon or a reconstructive surgeon can usually perform reconstructive surgery to improve the function and appearance of your baby’s hand. But unlike the surgical management of a cleft foot, surgery for a cleft hand can be more complicated. Your baby’s surgeon will discuss your baby’s unique case with you. Your child may need more than one surgery, starting when they’re an infant.

People who have ectrodactyly are at high risk for skin loss after surgery. In addition, finger stiffness remains a common complication after surgery, despite improved functioning.

Can ectrodactyly be prevented?

You can’t prevent ectrodactyly because it’s a genetic condition. But you can lower your risk by not drinking alcohol, smoking/vaping or using recreational drugs during your pregnancy.

If you have a family history of congenital hand differences or other genetic conditions, you may wish to speak to a genetic counselor about your chances of passing on the condition to your child.

What can I expect if my baby has ectrodactyly?

Most people with ectrodactyly have a high degree of functionality in their hands despite the visible difference. But surgery can sometimes correct the appearance. In cases where function is impaired, surgery can often result in improved usage and appearance. In one small study, people who had surgery to correct their ectrodactyly were satisfied with the cosmetic and functional outcome of the procedure.

How do I take care of my child?

If your child was born with ectrodactyly, you’ll want to seek treatment from a reputable pediatric orthopedic surgeon, plastic surgeon or reconstructive surgeon who specializes in the condition. They can help you determine the most appropriate treatment options for your child.

Correction for your child’s condition may be difficult, but your child’s provider will be able to guide you through the process. Many children with ectrodactyly lead normal lives with little to no functional limitations.

What questions should I ask my child’s healthcare provider?

Questions you may want to ask your child’s provider include:

• What type of ectrodactyly does my child have?
• Do they have any other genetic conditions?
• What kind of treatment will my baby need?
• How should I care for their hand after surgery?
• Will they need follow-up surgeries?
• What type of therapy offerings or other programs are available?