Congenital Limb Deficiency in Children

What is Congenital Limb Deficiency?

Congenital limb deficiency is a group of congenital anomaly in which the bony segment of the limb is absent, malformed, under-develop along with joint abnormality & ligament deficiency. A common problem in this group is Proximal femoral focal deficiency, tibial hemimelia, fibular hemimelia, radial club hand, etc.

What causes Congenital Limb Deficiency in children?

Most of the time, the causes are not known. Sporadic genetic events may be one of the important causes for developing this abnormality. Some teratogenic drugs like thalidomide taken during pregnancy can also cause this type of congenital abnormality.

What are the Symptoms of Congenital Limb Deficiency?

In congenital limb deficiency, the child will have limb discrepancy, joint deformity, bony torsion, and joint instability. One or more type of deformity can present simultaneously.

How Congenital Limb Deficiency diagnosed in child?

Most of congenital limb deficiency problem is easily identifiable at time of birth. Type of congenital anomaly can be easily defined by a pediatric orthopedic surgeon by clinical examination. Some children may need x-ray & ultrasounds to define the exact deficiency. MRI is needed to see cartilaginous character of deformity and ligament deficiency.

How Congenital Limb Deficiency can be treated in a child?

Treatment of congenital limb deficiency start from the identification of problem, define the type of problem, severity, a combination of deficit and Paley type. Then treatment is being planned in stages. Initially, till the age of 1 year, counselling of parents, observation of progress and maintenance of good health of child is the priority. Once is mature enough to bear long surgical time, they will go to major reconstructive procedure. Once major reconstruction is completed then staged limb lengthening is being performed.

Prognosis for Congenital Limb Deficiency–

Congenital limb deficiency can be managed nicely but require careful planning and detail assessment. Treatment of congenital limb deficiency should be done by pediatric orthopedic surgeon & experienced in limb reconstruction of congenital limb deficiency. But these children requited staged multiple surgery and regular follow up till maturity. These surgeries are not without complication and require blood transfusion. Most of the limb deficiency children can have walking capability fully independent if managed properly. Patience and detail understanding is required by whole team of medical specialist and family.

Frequently Asked Questions