Summary about Disease
Fibular hemimelia (FH) is a congenital (present at birth) longitudinal deficiency where part or all of the fibula (the smaller of the two bones in the lower leg) is missing. It's a rare condition that can range from mild to severe, affecting the development of other leg structures. It is not contagious.
Symptoms
Symptoms vary depending on the severity. They can include:
Shortening of the affected leg
Bowing of the tibia (shin bone)
Foot deformities (e.g., clubfoot, missing toes, ball-and-socket ankle joint malformation)
Instability of the ankle
Absence or hypoplasia (underdevelopment) of the fibula
Discrepancy in leg length
Knee instability (less common)
Causes
The exact cause of fibular hemimelia is not fully understood. It is considered a complex condition involving genetic and environmental factors, but it is considered sporadic, meaning it is not often inherited. There is a reported connection to mutations in the WNT7A gene. Vascular disruption during fetal development is also a possible contributing factor.
Medicine Used
There's no medicine to "cure" FH. Medical interventions primarily address associated symptoms and aim to improve function. These interventions may include:
Pain Management: Analgesics (over-the-counter or prescription) for pain relief.
Bisphosphonates: May be used to manage bone density.
Antibiotics: Used to treat infections.
Is Communicable
No, fibular hemimelia is not communicable or contagious. It is a congenital condition, meaning it is present at birth and not caused by an infectious agent.
Precautions
Since FH is congenital, there are no precautions to prevent it in an existing pregnancy. However, preconception care, including genetic counseling if there is a family history of limb differences, may be considered. The folic acid supplements before pregnancy may also reduce the rate of congenital abnormalities.
How long does an outbreak last?
Fibular hemimelia is not an outbreak-related disease. It is a birth defect, and therefore the concept of an "outbreak" does not apply.
How is it diagnosed?
Diagnosis typically occurs at birth or during prenatal ultrasound. Diagnostic methods include:
Prenatal Ultrasound: Can detect limb abnormalities during pregnancy.
Physical Examination: Assessment of the infant's legs and feet after birth.
X-rays: To visualize the bones of the leg and foot and assess the extent of fibular deficiency.
MRI: May be used for detailed assessment of soft tissues and joint structures.
Genetic Testing: Rarely done, but can be used to search for WNT7A mutations.
Timeline of Symptoms
Symptoms are present from birth. The severity and the precise manifestations will remain constant throughout the individual's life unless interventions are performed.
Important Considerations
Multidisciplinary Approach: Management requires a team including pediatricians, orthopedic surgeons, prosthetists/orthotists, physical therapists, and geneticists.
Treatment Goals: Focus on maximizing function, achieving leg length equality, and addressing foot deformities. Treatment options may include observation, bracing, limb lengthening procedures, reconstructive surgery, or amputation and prosthetic fitting.
Psychological Support: Counseling and support groups can be beneficial for the child and family, especially regarding body image and adjustment to living with a limb difference.
Early Intervention: Physical therapy and early intervention programs can help optimize motor development and function.
Long-Term Follow-Up: Individuals with FH require ongoing monitoring and management throughout their lives.