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

What is Congenital Limb Deficiency?

Congenital limb defect occurs when the upper and lower limb doesn’t normally form as a baby develops in the uterus, and the baby is born with a malformed limb. This is known as a Congenital limb defect.

What causes congenital limb deficiency?

Most of the time exact cause of a congenital limb defect is usually not known. Several things may increase the chances of a child being born with such a congenital limb defect. Genetic problems or exposure to some viruses or chemicals are included in this.

How do doctors Treat congenital limb defect in child?

For congenital limb defect, there is no such standard treatment. Some Treatment options may include – 

  • Artificial limbs (prosthetics)
  • Splints or braces (orthotics)
  • Surgery
  • Rehabilitation, such as physical or occupational therapy

MEDICALLY REVIEWED AND EDITED BY DR. JITENDRA KUMAR JAIN
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Dr. Jitendra Kumar Jain is a famous name in the field of childhood physical disability pediatric orthopedic problems in North India. He has been an MS Orthopedics, DNB Orthopedics, Pediatric orthopedic surgeon & also a cerebral palsy specialist for over 21 years.

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