A child uses his hands for everything from holding a cup to grasping a pencil. So life can be difficult for children born with congenital hand disorders, which range from the barely noticeable, such as fingers that don't function normally or are shorter than usual, to dramatic, such as a missing arm.

Felicity Fishman, MD, a highly specialized pediatric hand specialist and an assistant professor of orthopaedics at Yale School of Medicine, has extensive experience treating children with congenital hand conditions. She often collaborates with other Yale Medicine pediatric specialists to determine the best approach for each new patient. 

Congenital hand disorders may start early in pregnancy, when arms, followed by hands, and then fingers, develop. When this process is interrupted, or a genetic syndrome or environmental problem interferes with it, a congenital hand condition results. Sometimes problems with the hands or upper extremities develop after birth, as a result of a trauma or illness. 

Sometimes fingers and hands develop differently for no apparent reason. Among the most common of these birth defects are:

• A hand or arm that doesn’t fully develop in pregnancy
• Failure of parts of the hand to separate during pregnancy, resulting in hands and fingers or bones that are fused together
• Extra or missing fingers
• Fingers of unusual size, either larger or smaller
• Constriction band syndrome, in which a band of tissue forms around part of the hand or finger and constricts blood flow, growth and movement

Conditions that can damage or interfere with the appearance or function of the fingers, hand or arm include:

• Cerebral palsy, a brain disorder that affects muscle movements and typically appears in infancy or early childhood
• Arthritis, including not only age-related osteoarthritis but also rheumatoid arthritis, an autoimmune disease that can affect anyone, including infants as young as 6 weeks 

Diagnosis is based on a physical examination, imaging studies and observation. According to Dr. Fishman, the way this information is obtained varies, depending on a patient’s age. 

• Prenatal diagnosis. Some congenital problems are identified using prenatal ultrasound, allowing treatment planning to begin before birth. “A prenatal consultation can be helpful in establishing a care plan and giving parents an idea of what life may be like when the baby is born,” Dr. Fishman says.
• Diagnosis in infancy. Some conditions don’t become apparent until later in infancy, when parents observe that a baby isn’t using hands or arms in typical ways. Dr. Fishman keeps toys in her office to engage babies in play so she can see how the hands are (and are not) used. “By watching them interact with big toys, and little toys and blocks, we can ascertain patterns of use for their hands, identify the problem and determine if there is a way to make them more functional,” Dr. Fishman says. Conversations with parents, a physical exam and imaging tests provide further information to make a diagnosis.
• Older children and adults. When patients are able to contribute helpful information and follow instructions, diagnosis becomes more straightforward.

From physical therapy to prosthetic devices, and splints to surgery, there are many ways to help children and adults with congenital hand and upper extremity conditions. Dr. Fishman says many children will not need an intervention to improve function.

“It’s interesting to watch a child develop and see how the brain works out what needs to get done,” she says. “One of the really fun parts of my job is following kids from the time they are born until much later in childhood. I enjoy seeing how they develop and, if needed, we can intervene and help them become more functional as they interact with the outside world.”

Surgical treatment is always individualized to the needs of a particular patient, taking into account personal priorities regarding function and appearance. 

Dr. Fishman says that a “favorite procedure” of hers is a “pollicization” to create a thumb for a child born without one. Because the thumb is necessary for such everyday functions as picking up large objects and grasping small ones, this operation essentially transforms the index finger into a thumb. It is made smaller, turned around and relocated to create a hand that works normally.

Dr. Fishman also performs microsurgery and digit replacements and treats traumatic injuries to the hands and arms.

Older patients sometimes need joint replacements for the fingers, wrist and elbow, or surgical repair and reconstruction following trauma, she says. An example is a “toe to thumb transfer” to replace a thumb severed in an accident.

“Children are like little salamanders,” says Dr. Fishman. “They heal very quickly.” After an operation that can take from one to several hours, a child will wear a cast for about four weeks and then move on to a splint and physical therapy. Full movement is typically restored after three months.

Though the sequence is the same, adults take longer to heal.

Dr. Fishman has completed more extensive and advanced training than any other pediatric hand surgeon in Connecticut.

She says patients also benefit greatly from Yale Medicine’s emphasis on doctors with different specializations collaborating on cases. “There is a lot of terrific collaboration among the members of the pediatric division,” she says. For example, since it’s not unusual for a child with a hand condition  to have a similar condition affecting the foot. In such cases, surgical teams may work together to do several procedures at once, minimizing a child's exposure to anesthesia and overall recovery time. 

Similarly, appointments and medical tests can be consolidated for the convenience of the family. Dr. Fishman says.